dbSNP Short Genetic Variations
Welcome to the Reference SNP (rs) Report
All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.
Reference SNP (rs) Report
This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.
rs775980753
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr17:59049202-59049207 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
- Alleles
- delCTC
- Variation Type
- Indel Insertion and Deletion
- Frequency
-
delCTC=0.000015 (4/264690, TOPMED)delCTC=0.000032 (8/251462, GnomAD_exome)delCTC=0.000033 (4/121292, ExAC) (+ 3 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
- TRIM37 : Inframe Deletion
- Publications
- 0 citations
- Genomic View
- See rs on genome
ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.
Release Version: 20230706150541
| Population | Group | Sample Size | Ref Allele | Alt Allele |
|---|---|---|---|---|
| Total | Global | 23038 | CTCCTC=0.99996 | CTC=0.00004 |
| European | Sub | 15752 | CTCCTC=1.00000 | CTC=0.00000 |
| African | Sub | 3492 | CTCCTC=1.0000 | CTC=0.0000 |
| African Others | Sub | 122 | CTCCTC=1.000 | CTC=0.000 |
| African American | Sub | 3370 | CTCCTC=1.0000 | CTC=0.0000 |
| Asian | Sub | 168 | CTCCTC=0.994 | CTC=0.006 |
| East Asian | Sub | 112 | CTCCTC=0.991 | CTC=0.009 |
| Other Asian | Sub | 56 | CTCCTC=1.00 | CTC=0.00 |
| Latin American 1 | Sub | 146 | CTCCTC=1.000 | CTC=0.000 |
| Latin American 2 | Sub | 610 | CTCCTC=1.000 | CTC=0.000 |
| South Asian | Sub | 98 | CTCCTC=1.00 | CTC=0.00 |
| Other | Sub | 2772 | CTCCTC=1.0000 | CTC=0.0000 |
Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").
Download| Study | Population | Group | Sample Size | Ref Allele | Alt Allele |
|---|---|---|---|---|---|
| TopMed | Global | Study-wide | 264690 | (CTC)2=0.999985 | delCTC=0.000015 |
| gnomAD - Exomes | Global | Study-wide | 251462 | (CTC)2=0.999968 | delCTC=0.000032 |
| gnomAD - Exomes | European | Sub | 135394 | (CTC)2=1.000000 | delCTC=0.000000 |
| gnomAD - Exomes | Asian | Sub | 49004 | (CTC)2=0.99986 | delCTC=0.00014 |
| gnomAD - Exomes | American | Sub | 34592 | (CTC)2=1.00000 | delCTC=0.00000 |
| gnomAD - Exomes | African | Sub | 16256 | (CTC)2=0.99994 | delCTC=0.00006 |
| gnomAD - Exomes | Ashkenazi Jewish | Sub | 10080 | (CTC)2=1.00000 | delCTC=0.00000 |
| gnomAD - Exomes | Other | Sub | 6136 | (CTC)2=1.0000 | delCTC=0.0000 |
| ExAC | Global | Study-wide | 121292 | (CTC)2=0.999967 | delCTC=0.000033 |
| ExAC | Europe | Sub | 73296 | (CTC)2=1.00000 | delCTC=0.00000 |
| ExAC | Asian | Sub | 25128 | (CTC)2=0.99988 | delCTC=0.00012 |
| ExAC | American | Sub | 11562 | (CTC)2=1.00000 | delCTC=0.00000 |
| ExAC | African | Sub | 10398 | (CTC)2=0.99990 | delCTC=0.00010 |
| ExAC | Other | Sub | 908 | (CTC)2=1.000 | delCTC=0.000 |
| Allele Frequency Aggregator | Total | Global | 23038 | (CTC)2=0.99996 | delCTC=0.00004 |
| Allele Frequency Aggregator | European | Sub | 15752 | (CTC)2=1.00000 | delCTC=0.00000 |
| Allele Frequency Aggregator | African | Sub | 3492 | (CTC)2=1.0000 | delCTC=0.0000 |
| Allele Frequency Aggregator | Other | Sub | 2772 | (CTC)2=1.0000 | delCTC=0.0000 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 610 | (CTC)2=1.000 | delCTC=0.000 |
| Allele Frequency Aggregator | Asian | Sub | 168 | (CTC)2=0.994 | delCTC=0.006 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 146 | (CTC)2=1.000 | delCTC=0.000 |
| Allele Frequency Aggregator | South Asian | Sub | 98 | (CTC)2=1.00 | delCTC=0.00 |
| GO Exome Sequencing Project | Global | Study-wide | 12518 | (CTC)2=0.99976 | delCTC=0.00024 |
| GO Exome Sequencing Project | European American | Sub | 8254 | (CTC)2=0.9996 | delCTC=0.0004 |
| GO Exome Sequencing Project | African American | Sub | 4264 | (CTC)2=1.0000 | delCTC=0.0000 |
| 1000Genomes_30x | Global | Study-wide | 6404 | (CTC)2=0.9998 | delCTC=0.0002 |
| 1000Genomes_30x | African | Sub | 1786 | (CTC)2=0.9994 | delCTC=0.0006 |
| 1000Genomes_30x | Europe | Sub | 1266 | (CTC)2=1.0000 | delCTC=0.0000 |
| 1000Genomes_30x | South Asian | Sub | 1202 | (CTC)2=1.0000 | delCTC=0.0000 |
| 1000Genomes_30x | East Asian | Sub | 1170 | (CTC)2=1.0000 | delCTC=0.0000 |
| 1000Genomes_30x | American | Sub | 980 | (CTC)2=1.000 | delCTC=0.000 |
Help
Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.
Genomic Placements
| Sequence name | Change |
|---|---|
| GRCh38.p14 chr 17 | NC_000017.11:g.59049202CTC[1] |
| GRCh37.p13 chr 17 | NC_000017.10:g.57126563CTC[1] |
| TRIM37 RefSeqGene | NG_009298.1:g.62699GAG[1] |
Gene: TRIM37, tripartite motif containing 37
(minus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| TRIM37 transcript variant 1 | NM_015294.6:c.1501GAG[1] | EE [GAG] > E [] | Coding Sequence Variant |
| E3 ubiquitin-protein ligase TRIM37 isoform a | NP_056109.1:p.Glu502del | EE (GluGlu) > E (Glu) | Inframe Deletion |
| TRIM37 transcript variant 10 | NM_001353083.2:c.766GAG[1] | EE [GAG] > E [] | Coding Sequence Variant |
| E3 ubiquitin-protein ligase TRIM37 isoform f | NP_001340012.1:p.Glu257del | EE (GluGlu) > E (Glu) | Inframe Deletion |
| TRIM37 transcript variant 5 |
NM_001320989.3:c.1501GAG[… NM_001320989.3:c.1501GAG[1] |
EE [GAG] > E [] | Coding Sequence Variant |
| E3 ubiquitin-protein ligase TRIM37 isoform c | NP_001307918.1:p.Glu502del | EE (GluGlu) > E (Glu) | Inframe Deletion |
| TRIM37 transcript variant 12 |
NM_001353085.2:c.1039GAG[… NM_001353085.2:c.1039GAG[1] |
EE [GAG] > E [] | Coding Sequence Variant |
| E3 ubiquitin-protein ligase TRIM37 isoform h | NP_001340014.1:p.Glu348del | EE (GluGlu) > E (Glu) | Inframe Deletion |
| TRIM37 transcript variant 7 |
NM_001353082.2:c.1399GAG[… NM_001353082.2:c.1399GAG[1] |
EE [GAG] > E [] | Coding Sequence Variant |
| E3 ubiquitin-protein ligase TRIM37 isoform e | NP_001340011.1:p.Glu468del | EE (GluGlu) > E (Glu) | Inframe Deletion |
| TRIM37 transcript variant 6 |
NM_001320990.3:c.1135GAG[… NM_001320990.3:c.1135GAG[1] |
EE [GAG] > E [] | Coding Sequence Variant |
| E3 ubiquitin-protein ligase TRIM37 isoform d | NP_001307919.1:p.Glu380del | EE (GluGlu) > E (Glu) | Inframe Deletion |
| TRIM37 transcript variant 13 |
NM_001353086.2:c.1450GAG[… NM_001353086.2:c.1450GAG[1] |
EE [GAG] > E [] | Coding Sequence Variant |
| E3 ubiquitin-protein ligase TRIM37 isoform i | NP_001340015.1:p.Glu485del | EE (GluGlu) > E (Glu) | Inframe Deletion |
| TRIM37 transcript variant 4 |
NM_001320988.3:c.1501GAG[… NM_001320988.3:c.1501GAG[1] |
EE [GAG] > E [] | Coding Sequence Variant |
| E3 ubiquitin-protein ligase TRIM37 isoform c | NP_001307917.1:p.Glu502del | EE (GluGlu) > E (Glu) | Inframe Deletion |
| TRIM37 transcript variant 3 |
NM_001320987.3:c.1399GAG[… NM_001320987.3:c.1399GAG[1] |
EE [GAG] > E [] | Coding Sequence Variant |
| E3 ubiquitin-protein ligase TRIM37 isoform b | NP_001307916.1:p.Glu468del | EE (GluGlu) > E (Glu) | Inframe Deletion |
| TRIM37 transcript variant 2 |
NM_001005207.5:c.1501GAG[… NM_001005207.5:c.1501GAG[1] |
EE [GAG] > E [] | Coding Sequence Variant |
| E3 ubiquitin-protein ligase TRIM37 isoform a | NP_001005207.1:p.Glu502del | EE (GluGlu) > E (Glu) | Inframe Deletion |
| TRIM37 transcript variant 11 |
NM_001353084.2:c.1501GAG[… NM_001353084.2:c.1501GAG[1] |
EE [GAG] > E [] | Coding Sequence Variant |
| E3 ubiquitin-protein ligase TRIM37 isoform g | NP_001340013.1:p.Glu502del | EE (GluGlu) > E (Glu) | Inframe Deletion |
| TRIM37 transcript variant 9 | NR_148347.2:n.1818GAG[1] | N/A | Non Coding Transcript Variant |
| TRIM37 transcript variant 8 | NR_148346.2:n.1920GAG[1] | N/A | Non Coding Transcript Variant |
| TRIM37 transcript variant X1 |
XM_011524831.2:c.1501GAG[… XM_011524831.2:c.1501GAG[1] |
EE [GAG] > E [] | Coding Sequence Variant |
| E3 ubiquitin-protein ligase TRIM37 isoform X1 | XP_011523133.1:p.Glu502del | EE (GluGlu) > E (Glu) | Inframe Deletion |
| TRIM37 transcript variant X2 |
XM_017024662.2:c.1501GAG[… XM_017024662.2:c.1501GAG[1] |
EE [GAG] > E [] | Coding Sequence Variant |
| E3 ubiquitin-protein ligase TRIM37 isoform X2 | XP_016880151.1:p.Glu502del | EE (GluGlu) > E (Glu) | Inframe Deletion |
| TRIM37 transcript variant X3 |
XM_011524832.3:c.1501GAG[… XM_011524832.3:c.1501GAG[1] |
EE [GAG] > E [] | Coding Sequence Variant |
| E3 ubiquitin-protein ligase TRIM37 isoform X3 | XP_011523134.1:p.Glu502del | EE (GluGlu) > E (Glu) | Inframe Deletion |
| TRIM37 transcript variant X4 |
XM_017024663.3:c.1501GAG[… XM_017024663.3:c.1501GAG[1] |
EE [GAG] > E [] | Coding Sequence Variant |
| E3 ubiquitin-protein ligase TRIM37 isoform X4 | XP_016880152.1:p.Glu502del | EE (GluGlu) > E (Glu) | Inframe Deletion |
| TRIM37 transcript variant X5 |
XM_011524833.2:c.1450GAG[… XM_011524833.2:c.1450GAG[1] |
EE [GAG] > E [] | Coding Sequence Variant |
| E3 ubiquitin-protein ligase TRIM37 isoform X5 | XP_011523135.1:p.Glu485del | EE (GluGlu) > E (Glu) | Inframe Deletion |
| TRIM37 transcript variant X6 |
XM_005257385.2:c.1501GAG[… XM_005257385.2:c.1501GAG[1] |
EE [GAG] > E [] | Coding Sequence Variant |
| E3 ubiquitin-protein ligase TRIM37 isoform X6 | XP_005257442.1:p.Glu502del | EE (GluGlu) > E (Glu) | Inframe Deletion |
| TRIM37 transcript variant X7 |
XM_047436106.1:c.1450GAG[… XM_047436106.1:c.1450GAG[1] |
EE [GAG] > E [] | Coding Sequence Variant |
| E3 ubiquitin-protein ligase TRIM37 isoform X7 | XP_047292062.1:p.Glu485del | EE (GluGlu) > E (Glu) | Inframe Deletion |
| TRIM37 transcript variant X8 |
XM_011524834.2:c.1399GAG[… XM_011524834.2:c.1399GAG[1] |
EE [GAG] > E [] | Coding Sequence Variant |
| E3 ubiquitin-protein ligase TRIM37 isoform X8 | XP_011523136.1:p.Glu468del | EE (GluGlu) > E (Glu) | Inframe Deletion |
| TRIM37 transcript variant X9 |
XM_047436107.1:c.1399GAG[… XM_047436107.1:c.1399GAG[1] |
EE [GAG] > E [] | Coding Sequence Variant |
| E3 ubiquitin-protein ligase TRIM37 isoform X9 | XP_047292063.1:p.Glu468del | EE (GluGlu) > E (Glu) | Inframe Deletion |
| TRIM37 transcript variant X10 |
XM_047436108.1:c.1450GAG[… XM_047436108.1:c.1450GAG[1] |
EE [GAG] > E [] | Coding Sequence Variant |
| E3 ubiquitin-protein ligase TRIM37 isoform X10 | XP_047292064.1:p.Glu485del | EE (GluGlu) > E (Glu) | Inframe Deletion |
| TRIM37 transcript variant X11 |
XM_017024665.2:c.1399GAG[… XM_017024665.2:c.1399GAG[1] |
EE [GAG] > E [] | Coding Sequence Variant |
| E3 ubiquitin-protein ligase TRIM37 isoform X11 | XP_016880154.1:p.Glu468del | EE (GluGlu) > E (Glu) | Inframe Deletion |
| TRIM37 transcript variant X12 |
XM_047436109.1:c.1501GAG[… XM_047436109.1:c.1501GAG[1] |
EE [GAG] > E [] | Coding Sequence Variant |
| E3 ubiquitin-protein ligase TRIM37 isoform X12 | XP_047292065.1:p.Glu502del | EE (GluGlu) > E (Glu) | Inframe Deletion |
| TRIM37 transcript variant X13 |
XM_047436110.1:c.1399GAG[… XM_047436110.1:c.1399GAG[1] |
EE [GAG] > E [] | Coding Sequence Variant |
| E3 ubiquitin-protein ligase TRIM37 isoform X13 | XP_047292066.1:p.Glu468del | EE (GluGlu) > E (Glu) | Inframe Deletion |
| TRIM37 transcript variant X14 |
XM_011524836.2:c.1501GAG[… XM_011524836.2:c.1501GAG[1] |
EE [GAG] > E [] | Coding Sequence Variant |
| E3 ubiquitin-protein ligase TRIM37 isoform X14 | XP_011523138.1:p.Glu502del | EE (GluGlu) > E (Glu) | Inframe Deletion |
| TRIM37 transcript variant X15 |
XM_047436111.1:c.1501GAG[… XM_047436111.1:c.1501GAG[1] |
EE [GAG] > E [] | Coding Sequence Variant |
| E3 ubiquitin-protein ligase TRIM37 isoform X15 | XP_047292067.1:p.Glu502del | EE (GluGlu) > E (Glu) | Inframe Deletion |
| TRIM37 transcript variant X16 |
XM_017024667.2:c.1450GAG[… XM_017024667.2:c.1450GAG[1] |
EE [GAG] > E [] | Coding Sequence Variant |
| E3 ubiquitin-protein ligase TRIM37 isoform X16 | XP_016880156.1:p.Glu485del | EE (GluGlu) > E (Glu) | Inframe Deletion |
| TRIM37 transcript variant X17 |
XM_047436112.1:c.1348GAG[… XM_047436112.1:c.1348GAG[1] |
EE [GAG] > E [] | Coding Sequence Variant |
| E3 ubiquitin-protein ligase TRIM37 isoform X17 | XP_047292068.1:p.Glu451del | EE (GluGlu) > E (Glu) | Inframe Deletion |
| TRIM37 transcript variant X18 |
XM_047436113.1:c.1399GAG[… XM_047436113.1:c.1399GAG[1] |
EE [GAG] > E [] | Coding Sequence Variant |
| E3 ubiquitin-protein ligase TRIM37 isoform X18 | XP_047292069.1:p.Glu468del | EE (GluGlu) > E (Glu) | Inframe Deletion |
| TRIM37 transcript variant X19 |
XM_047436114.1:c.1399GAG[… XM_047436114.1:c.1399GAG[1] |
EE [GAG] > E [] | Coding Sequence Variant |
| E3 ubiquitin-protein ligase TRIM37 isoform X19 | XP_047292070.1:p.Glu468del | EE (GluGlu) > E (Glu) | Inframe Deletion |
| TRIM37 transcript variant X20 |
XM_047436115.1:c.1501GAG[… XM_047436115.1:c.1501GAG[1] |
EE [GAG] > E [] | Coding Sequence Variant |
| E3 ubiquitin-protein ligase TRIM37 isoform X20 | XP_047292071.1:p.Glu502del | EE (GluGlu) > E (Glu) | Inframe Deletion |
| TRIM37 transcript variant X21 |
XM_047436116.1:c.1501GAG[… XM_047436116.1:c.1501GAG[1] |
EE [GAG] > E [] | Coding Sequence Variant |
| E3 ubiquitin-protein ligase TRIM37 isoform X21 | XP_047292072.1:p.Glu502del | EE (GluGlu) > E (Glu) | Inframe Deletion |
| TRIM37 transcript variant X22 |
XM_017024669.3:c.1348GAG[… XM_017024669.3:c.1348GAG[1] |
EE [GAG] > E [] | Coding Sequence Variant |
| E3 ubiquitin-protein ligase TRIM37 isoform X22 | XP_016880158.1:p.Glu451del | EE (GluGlu) > E (Glu) | Inframe Deletion |
| TRIM37 transcript variant X23 |
XM_047436117.1:c.1450GAG[… XM_047436117.1:c.1450GAG[1] |
EE [GAG] > E [] | Coding Sequence Variant |
| E3 ubiquitin-protein ligase TRIM37 isoform X23 | XP_047292073.1:p.Glu485del | EE (GluGlu) > E (Glu) | Inframe Deletion |
| TRIM37 transcript variant X24 |
XM_047436118.1:c.1501GAG[… XM_047436118.1:c.1501GAG[1] |
EE [GAG] > E [] | Coding Sequence Variant |
| E3 ubiquitin-protein ligase TRIM37 isoform X24 | XP_047292074.1:p.Glu502del | EE (GluGlu) > E (Glu) | Inframe Deletion |
| TRIM37 transcript variant X25 |
XM_047436119.1:c.1450GAG[… XM_047436119.1:c.1450GAG[1] |
EE [GAG] > E [] | Coding Sequence Variant |
| E3 ubiquitin-protein ligase TRIM37 isoform X25 | XP_047292075.1:p.Glu485del | EE (GluGlu) > E (Glu) | Inframe Deletion |
| TRIM37 transcript variant X26 |
XM_047436120.1:c.1399GAG[… XM_047436120.1:c.1399GAG[1] |
EE [GAG] > E [] | Coding Sequence Variant |
| E3 ubiquitin-protein ligase TRIM37 isoform X26 | XP_047292076.1:p.Glu468del | EE (GluGlu) > E (Glu) | Inframe Deletion |
| TRIM37 transcript variant X27 |
XM_017024670.3:c.1399GAG[… XM_017024670.3:c.1399GAG[1] |
EE [GAG] > E [] | Coding Sequence Variant |
| E3 ubiquitin-protein ligase TRIM37 isoform X27 | XP_016880159.1:p.Glu468del | EE (GluGlu) > E (Glu) | Inframe Deletion |
| TRIM37 transcript variant X28 |
XM_047436121.1:c.1399GAG[… XM_047436121.1:c.1399GAG[1] |
EE [GAG] > E [] | Coding Sequence Variant |
| E3 ubiquitin-protein ligase TRIM37 isoform X28 | XP_047292077.1:p.Glu468del | EE (GluGlu) > E (Glu) | Inframe Deletion |
| TRIM37 transcript variant X29 |
XM_047436122.1:c.1399GAG[… XM_047436122.1:c.1399GAG[1] |
EE [GAG] > E [] | Coding Sequence Variant |
| E3 ubiquitin-protein ligase TRIM37 isoform X29 | XP_047292078.1:p.Glu468del | EE (GluGlu) > E (Glu) | Inframe Deletion |
| TRIM37 transcript variant X30 |
XM_047436123.1:c.1501GAG[… XM_047436123.1:c.1501GAG[1] |
EE [GAG] > E [] | Coding Sequence Variant |
| E3 ubiquitin-protein ligase TRIM37 isoform X30 | XP_047292079.1:p.Glu502del | EE (GluGlu) > E (Glu) | Inframe Deletion |
| TRIM37 transcript variant X31 |
XM_047436124.1:c.1348GAG[… XM_047436124.1:c.1348GAG[1] |
EE [GAG] > E [] | Coding Sequence Variant |
| E3 ubiquitin-protein ligase TRIM37 isoform X31 | XP_047292080.1:p.Glu451del | EE (GluGlu) > E (Glu) | Inframe Deletion |
| TRIM37 transcript variant X32 |
XM_047436125.1:c.1348GAG[… XM_047436125.1:c.1348GAG[1] |
EE [GAG] > E [] | Coding Sequence Variant |
| E3 ubiquitin-protein ligase TRIM37 isoform X32 | XP_047292081.1:p.Glu451del | EE (GluGlu) > E (Glu) | Inframe Deletion |
| TRIM37 transcript variant X33 |
XM_047436126.1:c.1399GAG[… XM_047436126.1:c.1399GAG[1] |
EE [GAG] > E [] | Coding Sequence Variant |
| E3 ubiquitin-protein ligase TRIM37 isoform X33 | XP_047292082.1:p.Glu468del | EE (GluGlu) > E (Glu) | Inframe Deletion |
| TRIM37 transcript variant X34 | XM_017024673.3:c.766GAG[1] | EE [GAG] > E [] | Coding Sequence Variant |
| E3 ubiquitin-protein ligase TRIM37 isoform X34 | XP_016880162.1:p.Glu257del | EE (GluGlu) > E (Glu) | Inframe Deletion |
Help
Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.
Allele: delCTC (allele ID:
1462742
)
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV002028330.3 | not provided | Uncertain-Significance |
Help
Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".
| Placement | (CTC)2= | delCTC |
|---|---|---|
| GRCh38.p14 chr 17 | NC_000017.11:g.59049202_59049207= | NC_000017.11:g.59049202CTC[1] |
| GRCh37.p13 chr 17 | NC_000017.10:g.57126563_57126568= | NC_000017.10:g.57126563CTC[1] |
| TRIM37 RefSeqGene | NG_009298.1:g.62699_62704= | NG_009298.1:g.62699GAG[1] |
| TRIM37 transcript variant 1 | NM_015294.6:c.1501_1506= | NM_015294.6:c.1501GAG[1] |
| TRIM37 transcript variant 1 | NM_015294.5:c.1501_1506= | NM_015294.5:c.1501GAG[1] |
| TRIM37 transcript variant 1 | NM_015294.4:c.1501_1506= | NM_015294.4:c.1501GAG[1] |
| TRIM37 transcript variant 1 | NM_015294.3:c.1501_1506= | NM_015294.3:c.1501GAG[1] |
| TRIM37 transcript variant 2 | NM_001005207.5:c.1501_1506= | NM_001005207.5:c.1501GAG[1] |
| TRIM37 transcript variant 2 | NM_001005207.4:c.1501_1506= | NM_001005207.4:c.1501GAG[1] |
| TRIM37 transcript variant 2 | NM_001005207.3:c.1501_1506= | NM_001005207.3:c.1501GAG[1] |
| TRIM37 transcript variant 2 | NM_001005207.2:c.1501_1506= | NM_001005207.2:c.1501GAG[1] |
| TRIM37 transcript variant 6 | NM_001320990.3:c.1135_1140= | NM_001320990.3:c.1135GAG[1] |
| TRIM37 transcript variant 6 | NM_001320990.2:c.1135_1140= | NM_001320990.2:c.1135GAG[1] |
| TRIM37 transcript variant 6 | NM_001320990.1:c.1135_1140= | NM_001320990.1:c.1135GAG[1] |
| TRIM37 transcript variant 3 | NM_001320987.3:c.1399_1404= | NM_001320987.3:c.1399GAG[1] |
| TRIM37 transcript variant 3 | NM_001320987.2:c.1399_1404= | NM_001320987.2:c.1399GAG[1] |
| TRIM37 transcript variant 3 | NM_001320987.1:c.1399_1404= | NM_001320987.1:c.1399GAG[1] |
| TRIM37 transcript variant 4 | NM_001320988.3:c.1501_1506= | NM_001320988.3:c.1501GAG[1] |
| TRIM37 transcript variant 4 | NM_001320988.2:c.1501_1506= | NM_001320988.2:c.1501GAG[1] |
| TRIM37 transcript variant 4 | NM_001320988.1:c.1501_1506= | NM_001320988.1:c.1501GAG[1] |
| TRIM37 transcript variant 5 | NM_001320989.3:c.1501_1506= | NM_001320989.3:c.1501GAG[1] |
| TRIM37 transcript variant 5 | NM_001320989.2:c.1501_1506= | NM_001320989.2:c.1501GAG[1] |
| TRIM37 transcript variant 5 | NM_001320989.1:c.1501_1506= | NM_001320989.1:c.1501GAG[1] |
| TRIM37 transcript variant 8 | NR_148346.2:n.1920_1925= | NR_148346.2:n.1920GAG[1] |
| TRIM37 transcript variant 8 | NR_148346.1:n.2004_2009= | NR_148346.1:n.2004GAG[1] |
| TRIM37 transcript variant 11 | NM_001353084.2:c.1501_1506= | NM_001353084.2:c.1501GAG[1] |
| TRIM37 transcript variant 11 | NM_001353084.1:c.1501_1506= | NM_001353084.1:c.1501GAG[1] |
| TRIM37 transcript variant 10 | NM_001353083.2:c.766_771= | NM_001353083.2:c.766GAG[1] |
| TRIM37 transcript variant 10 | NM_001353083.1:c.766_771= | NM_001353083.1:c.766GAG[1] |
| TRIM37 transcript variant 13 | NM_001353086.2:c.1450_1455= | NM_001353086.2:c.1450GAG[1] |
| TRIM37 transcript variant 13 | NM_001353086.1:c.1450_1455= | NM_001353086.1:c.1450GAG[1] |
| TRIM37 transcript variant 9 | NR_148347.2:n.1818_1823= | NR_148347.2:n.1818GAG[1] |
| TRIM37 transcript variant 9 | NR_148347.1:n.1902_1907= | NR_148347.1:n.1902GAG[1] |
| TRIM37 transcript variant 7 | NM_001353082.2:c.1399_1404= | NM_001353082.2:c.1399GAG[1] |
| TRIM37 transcript variant 7 | NM_001353082.1:c.1399_1404= | NM_001353082.1:c.1399GAG[1] |
| TRIM37 transcript variant 12 | NM_001353085.2:c.1039_1044= | NM_001353085.2:c.1039GAG[1] |
| TRIM37 transcript variant 12 | NM_001353085.1:c.1039_1044= | NM_001353085.1:c.1039GAG[1] |
| TRIM37 transcript variant X3 | XM_011524832.3:c.1501_1506= | XM_011524832.3:c.1501GAG[1] |
| TRIM37 transcript variant X3 | XM_011524832.2:c.1501_1506= | XM_011524832.2:c.1501GAG[1] |
| TRIM37 transcript variant X2 | XM_011524832.1:c.1501_1506= | XM_011524832.1:c.1501GAG[1] |
| TRIM37 transcript variant X4 | XM_017024663.3:c.1501_1506= | XM_017024663.3:c.1501GAG[1] |
| TRIM37 transcript variant X4 | XM_017024663.2:c.1501_1506= | XM_017024663.2:c.1501GAG[1] |
| TRIM37 transcript variant X4 | XM_017024663.1:c.1501_1506= | XM_017024663.1:c.1501GAG[1] |
| TRIM37 transcript variant X22 | XM_017024669.3:c.1348_1353= | XM_017024669.3:c.1348GAG[1] |
| TRIM37 transcript variant X12 | XM_017024669.2:c.1348_1353= | XM_017024669.2:c.1348GAG[1] |
| TRIM37 transcript variant X15 | XM_017024669.1:c.1348_1353= | XM_017024669.1:c.1348GAG[1] |
| TRIM37 transcript variant X27 | XM_017024670.3:c.1399_1404= | XM_017024670.3:c.1399GAG[1] |
| TRIM37 transcript variant X13 | XM_017024670.2:c.1399_1404= | XM_017024670.2:c.1399GAG[1] |
| TRIM37 transcript variant X16 | XM_017024670.1:c.1399_1404= | XM_017024670.1:c.1399GAG[1] |
| TRIM37 transcript variant X34 | XM_017024673.3:c.766_771= | XM_017024673.3:c.766GAG[1] |
| TRIM37 transcript variant X17 | XM_017024673.2:c.766_771= | XM_017024673.2:c.766GAG[1] |
| TRIM37 transcript variant X20 | XM_017024673.1:c.766_771= | XM_017024673.1:c.766GAG[1] |
| TRIM37 transcript variant X2 | XM_017024662.2:c.1501_1506= | XM_017024662.2:c.1501GAG[1] |
| TRIM37 transcript variant X2 | XM_017024662.1:c.1501_1506= | XM_017024662.1:c.1501GAG[1] |
| TRIM37 transcript variant X1 | XM_011524831.2:c.1501_1506= | XM_011524831.2:c.1501GAG[1] |
| TRIM37 transcript variant X1 | XM_011524831.1:c.1501_1506= | XM_011524831.1:c.1501GAG[1] |
| TRIM37 transcript variant X11 | XM_017024665.2:c.1399_1404= | XM_017024665.2:c.1399GAG[1] |
| TRIM37 transcript variant X9 | XM_017024665.1:c.1399_1404= | XM_017024665.1:c.1399GAG[1] |
| TRIM37 transcript variant X14 | XM_011524836.2:c.1501_1506= | XM_011524836.2:c.1501GAG[1] |
| TRIM37 transcript variant X10 | XM_011524836.1:c.1501_1506= | XM_011524836.1:c.1501GAG[1] |
| TRIM37 transcript variant X6 | XM_005257385.2:c.1501_1506= | XM_005257385.2:c.1501GAG[1] |
| TRIM37 transcript variant X6 | XM_005257385.1:c.1501_1506= | XM_005257385.1:c.1501GAG[1] |
| TRIM37 transcript variant X16 | XM_017024667.2:c.1450_1455= | XM_017024667.2:c.1450GAG[1] |
| TRIM37 transcript variant X11 | XM_017024667.1:c.1450_1455= | XM_017024667.1:c.1450GAG[1] |
| TRIM37 transcript variant X5 | XM_011524833.2:c.1450_1455= | XM_011524833.2:c.1450GAG[1] |
| TRIM37 transcript variant X5 | XM_011524833.1:c.1450_1455= | XM_011524833.1:c.1450GAG[1] |
| TRIM37 transcript variant X8 | XM_011524834.2:c.1399_1404= | XM_011524834.2:c.1399GAG[1] |
| TRIM37 transcript variant X7 | XM_011524834.1:c.1399_1404= | XM_011524834.1:c.1399GAG[1] |
| TRIM37 transcript variant X9 | XM_047436107.1:c.1399_1404= | XM_047436107.1:c.1399GAG[1] |
| TRIM37 transcript variant X13 | XM_047436110.1:c.1399_1404= | XM_047436110.1:c.1399GAG[1] |
| TRIM37 transcript variant X15 | XM_047436111.1:c.1501_1506= | XM_047436111.1:c.1501GAG[1] |
| TRIM37 transcript variant X7 | XM_047436106.1:c.1450_1455= | XM_047436106.1:c.1450GAG[1] |
| TRIM37 transcript variant X12 | XM_047436109.1:c.1501_1506= | XM_047436109.1:c.1501GAG[1] |
| TRIM37 transcript variant X25 | XM_047436119.1:c.1450_1455= | XM_047436119.1:c.1450GAG[1] |
| TRIM37 transcript variant X26 | XM_047436120.1:c.1399_1404= | XM_047436120.1:c.1399GAG[1] |
| TRIM37 transcript variant X31 | XM_047436124.1:c.1348_1353= | XM_047436124.1:c.1348GAG[1] |
| TRIM37 transcript variant X32 | XM_047436125.1:c.1348_1353= | XM_047436125.1:c.1348GAG[1] |
| TRIM37 transcript variant X33 | XM_047436126.1:c.1399_1404= | XM_047436126.1:c.1399GAG[1] |
| TRIM37 transcript variant X10 | XM_047436108.1:c.1450_1455= | XM_047436108.1:c.1450GAG[1] |
| TRIM37 transcript variant X18 | XM_047436113.1:c.1399_1404= | XM_047436113.1:c.1399GAG[1] |
| TRIM37 transcript variant X20 | XM_047436115.1:c.1501_1506= | XM_047436115.1:c.1501GAG[1] |
| TRIM37 transcript variant X19 | XM_047436114.1:c.1399_1404= | XM_047436114.1:c.1399GAG[1] |
| TRIM37 transcript variant X21 | XM_047436116.1:c.1501_1506= | XM_047436116.1:c.1501GAG[1] |
| TRIM37 transcript variant X23 | XM_047436117.1:c.1450_1455= | XM_047436117.1:c.1450GAG[1] |
| TRIM37 transcript variant X28 | XM_047436121.1:c.1399_1404= | XM_047436121.1:c.1399GAG[1] |
| TRIM37 transcript variant X29 | XM_047436122.1:c.1399_1404= | XM_047436122.1:c.1399GAG[1] |
| TRIM37 transcript variant X30 | XM_047436123.1:c.1501_1506= | XM_047436123.1:c.1501GAG[1] |
| TRIM37 transcript variant X17 | XM_047436112.1:c.1348_1353= | XM_047436112.1:c.1348GAG[1] |
| TRIM37 transcript variant X24 | XM_047436118.1:c.1501_1506= | XM_047436118.1:c.1501GAG[1] |
| E3 ubiquitin-protein ligase TRIM37 isoform a | NP_056109.1:p.Glu501_Glu502= | NP_056109.1:p.Glu502del |
| E3 ubiquitin-protein ligase TRIM37 isoform a | NP_001005207.1:p.Glu501_Glu502= | NP_001005207.1:p.Glu502del |
| E3 ubiquitin-protein ligase TRIM37 isoform d | NP_001307919.1:p.Glu379_Glu380= | NP_001307919.1:p.Glu380del |
| E3 ubiquitin-protein ligase TRIM37 isoform b | NP_001307916.1:p.Glu467_Glu468= | NP_001307916.1:p.Glu468del |
| E3 ubiquitin-protein ligase TRIM37 isoform c | NP_001307917.1:p.Glu501_Glu502= | NP_001307917.1:p.Glu502del |
| E3 ubiquitin-protein ligase TRIM37 isoform c | NP_001307918.1:p.Glu501_Glu502= | NP_001307918.1:p.Glu502del |
| E3 ubiquitin-protein ligase TRIM37 isoform g | NP_001340013.1:p.Glu501_Glu502= | NP_001340013.1:p.Glu502del |
| E3 ubiquitin-protein ligase TRIM37 isoform f | NP_001340012.1:p.Glu256_Glu257= | NP_001340012.1:p.Glu257del |
| E3 ubiquitin-protein ligase TRIM37 isoform i | NP_001340015.1:p.Glu484_Glu485= | NP_001340015.1:p.Glu485del |
| E3 ubiquitin-protein ligase TRIM37 isoform e | NP_001340011.1:p.Glu467_Glu468= | NP_001340011.1:p.Glu468del |
| E3 ubiquitin-protein ligase TRIM37 isoform h | NP_001340014.1:p.Glu347_Glu348= | NP_001340014.1:p.Glu348del |
| E3 ubiquitin-protein ligase TRIM37 isoform X3 | XP_011523134.1:p.Glu501_Glu502= | XP_011523134.1:p.Glu502del |
| E3 ubiquitin-protein ligase TRIM37 isoform X4 | XP_016880152.1:p.Glu501_Glu502= | XP_016880152.1:p.Glu502del |
| E3 ubiquitin-protein ligase TRIM37 isoform X22 | XP_016880158.1:p.Glu450_Glu451= | XP_016880158.1:p.Glu451del |
| E3 ubiquitin-protein ligase TRIM37 isoform X27 | XP_016880159.1:p.Glu467_Glu468= | XP_016880159.1:p.Glu468del |
| E3 ubiquitin-protein ligase TRIM37 isoform X34 | XP_016880162.1:p.Glu256_Glu257= | XP_016880162.1:p.Glu257del |
| E3 ubiquitin-protein ligase TRIM37 isoform X2 | XP_016880151.1:p.Glu501_Glu502= | XP_016880151.1:p.Glu502del |
| E3 ubiquitin-protein ligase TRIM37 isoform X1 | XP_011523133.1:p.Glu501_Glu502= | XP_011523133.1:p.Glu502del |
| E3 ubiquitin-protein ligase TRIM37 isoform X11 | XP_016880154.1:p.Glu467_Glu468= | XP_016880154.1:p.Glu468del |
| E3 ubiquitin-protein ligase TRIM37 isoform X14 | XP_011523138.1:p.Glu501_Glu502= | XP_011523138.1:p.Glu502del |
| E3 ubiquitin-protein ligase TRIM37 isoform X6 | XP_005257442.1:p.Glu501_Glu502= | XP_005257442.1:p.Glu502del |
| E3 ubiquitin-protein ligase TRIM37 isoform X16 | XP_016880156.1:p.Glu484_Glu485= | XP_016880156.1:p.Glu485del |
| E3 ubiquitin-protein ligase TRIM37 isoform X5 | XP_011523135.1:p.Glu484_Glu485= | XP_011523135.1:p.Glu485del |
| E3 ubiquitin-protein ligase TRIM37 isoform X8 | XP_011523136.1:p.Glu467_Glu468= | XP_011523136.1:p.Glu468del |
| E3 ubiquitin-protein ligase TRIM37 isoform X9 | XP_047292063.1:p.Glu467_Glu468= | XP_047292063.1:p.Glu468del |
| E3 ubiquitin-protein ligase TRIM37 isoform X13 | XP_047292066.1:p.Glu467_Glu468= | XP_047292066.1:p.Glu468del |
| E3 ubiquitin-protein ligase TRIM37 isoform X15 | XP_047292067.1:p.Glu501_Glu502= | XP_047292067.1:p.Glu502del |
| E3 ubiquitin-protein ligase TRIM37 isoform X7 | XP_047292062.1:p.Glu484_Glu485= | XP_047292062.1:p.Glu485del |
| E3 ubiquitin-protein ligase TRIM37 isoform X12 | XP_047292065.1:p.Glu501_Glu502= | XP_047292065.1:p.Glu502del |
| E3 ubiquitin-protein ligase TRIM37 isoform X25 | XP_047292075.1:p.Glu484_Glu485= | XP_047292075.1:p.Glu485del |
| E3 ubiquitin-protein ligase TRIM37 isoform X26 | XP_047292076.1:p.Glu467_Glu468= | XP_047292076.1:p.Glu468del |
| E3 ubiquitin-protein ligase TRIM37 isoform X31 | XP_047292080.1:p.Glu450_Glu451= | XP_047292080.1:p.Glu451del |
| E3 ubiquitin-protein ligase TRIM37 isoform X32 | XP_047292081.1:p.Glu450_Glu451= | XP_047292081.1:p.Glu451del |
| E3 ubiquitin-protein ligase TRIM37 isoform X33 | XP_047292082.1:p.Glu467_Glu468= | XP_047292082.1:p.Glu468del |
| E3 ubiquitin-protein ligase TRIM37 isoform X10 | XP_047292064.1:p.Glu484_Glu485= | XP_047292064.1:p.Glu485del |
| E3 ubiquitin-protein ligase TRIM37 isoform X18 | XP_047292069.1:p.Glu467_Glu468= | XP_047292069.1:p.Glu468del |
| E3 ubiquitin-protein ligase TRIM37 isoform X20 | XP_047292071.1:p.Glu501_Glu502= | XP_047292071.1:p.Glu502del |
| E3 ubiquitin-protein ligase TRIM37 isoform X19 | XP_047292070.1:p.Glu467_Glu468= | XP_047292070.1:p.Glu468del |
| E3 ubiquitin-protein ligase TRIM37 isoform X21 | XP_047292072.1:p.Glu501_Glu502= | XP_047292072.1:p.Glu502del |
| E3 ubiquitin-protein ligase TRIM37 isoform X23 | XP_047292073.1:p.Glu484_Glu485= | XP_047292073.1:p.Glu485del |
| E3 ubiquitin-protein ligase TRIM37 isoform X28 | XP_047292077.1:p.Glu467_Glu468= | XP_047292077.1:p.Glu468del |
| E3 ubiquitin-protein ligase TRIM37 isoform X29 | XP_047292078.1:p.Glu467_Glu468= | XP_047292078.1:p.Glu468del |
| E3 ubiquitin-protein ligase TRIM37 isoform X30 | XP_047292079.1:p.Glu501_Glu502= | XP_047292079.1:p.Glu502del |
| E3 ubiquitin-protein ligase TRIM37 isoform X17 | XP_047292068.1:p.Glu450_Glu451= | XP_047292068.1:p.Glu451del |
| E3 ubiquitin-protein ligase TRIM37 isoform X24 | XP_047292074.1:p.Glu501_Glu502= | XP_047292074.1:p.Glu502del |
Help
Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.
6 SubSNP,
6 Frequency,
1 ClinVar
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | EVA_EXAC | ss1712151496 | Apr 01, 2015 (144) |
| 2 | GNOMAD | ss2742884795 | Nov 08, 2017 (151) |
| 3 | EVA | ss3825135842 | Apr 27, 2020 (154) |
| 4 | TOPMED | ss5039900527 | Apr 26, 2021 (155) |
| 5 | 1000G_HIGH_COVERAGE | ss5607441097 | Oct 16, 2022 (156) |
| 6 | EVA | ss5834135341 | Oct 16, 2022 (156) |
| 7 | 1000Genomes_30x | NC_000017.11 - 59049202 | Oct 16, 2022 (156) |
| 8 | ExAC | NC_000017.10 - 57126563 | Oct 12, 2018 (152) |
| 9 | gnomAD - Exomes | NC_000017.10 - 57126563 | Jul 13, 2019 (153) |
| 10 | GO Exome Sequencing Project | NC_000017.10 - 57126563 | Oct 12, 2018 (152) |
| 11 | TopMed | NC_000017.11 - 59049202 | Apr 26, 2021 (155) |
| 12 | ALFA | NC_000017.11 - 59049202 | Apr 26, 2021 (155) |
| 13 | ClinVar | RCV002028330.3 | Oct 16, 2022 (156) |
Help
History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| 3336188, 12189886, 1592907, ss1712151496, ss2742884795, ss3825135842, ss5834135341 | NC_000017.10:57126562:CTC: | NC_000017.11:59049201:CTCCTC:CTC | (self) |
| 94967032, 255446189, ss5039900527, ss5607441097 | NC_000017.11:59049201:CTC: | NC_000017.11:59049201:CTCCTC:CTC | (self) |
| RCV002028330.3, 48105501 | NC_000017.11:59049201:CTCCTC:CTC | NC_000017.11:59049201:CTCCTC:CTC | (self) |
Help
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
No publications for rs775980753
Help
The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.
Genome context:
Select flank length:
Genomic regions, transcripts, and products
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Help
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.