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.
rs63750057
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr3:36993585 (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
- dupA / insCCCA
- Variation Type
- Indel Insertion and Deletion
- Frequency
-
None
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
-
MLH1 : Frameshift VariantEPM2AIP1 : 2KB Upstream Variant
- Publications
- 0 citations
- Genomic View
- See rs on genome
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").
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.
| Sequence name | Change |
|---|---|
| GRCh38.p14 chr 3 | NC_000003.12:g.36993585dup |
| GRCh38.p14 chr 3 | NC_000003.12:g.36993585_36993586insCCCA |
| GRCh37.p13 chr 3 | NC_000003.11:g.37035076dup |
| GRCh37.p13 chr 3 | NC_000003.11:g.37035076_37035077insCCCA |
| MLH1 RefSeqGene (LRG_216) | NG_007109.2:g.5236dup |
| MLH1 RefSeqGene (LRG_216) | NG_007109.2:g.5236_5237insCCCA |
| EPM2AIP1 RefSeqGene | NG_008418.1:g.4720dup |
| EPM2AIP1 RefSeqGene | NG_008418.1:g.4720_4721insGGGT |
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| MLH1 transcript variant 8 | NM_001354615.2:c.-589= | N/A | 5 Prime UTR Variant |
| MLH1 transcript variant 16 | NM_001354623.2:c.-1028= | N/A | 5 Prime UTR Variant |
| MLH1 transcript variant 9 | NM_001354616.2:c.-589= | N/A | 5 Prime UTR Variant |
| MLH1 transcript variant 11 | NM_001354618.2:c.-913= | N/A | 5 Prime UTR Variant |
| MLH1 transcript variant 13 | NM_001354620.2:c.-247= | N/A | 5 Prime UTR Variant |
| MLH1 transcript variant 20 | NM_001354627.2:c.-1016= | N/A | 5 Prime UTR Variant |
| MLH1 transcript variant 18 | NM_001354625.2:c.-687= | N/A | 5 Prime UTR Variant |
| MLH1 transcript variant 10 | NM_001354617.2:c.-681= | N/A | 5 Prime UTR Variant |
| MLH1 transcript variant 6 | NM_001258273.2:c.-595= | N/A | 5 Prime UTR Variant |
| MLH1 transcript variant 4 | NM_001167619.3:c.-821= | N/A | 5 Prime UTR Variant |
| MLH1 transcript variant 19 | NM_001354626.2:c.-784= | N/A | 5 Prime UTR Variant |
| MLH1 transcript variant 3 | NM_001167618.3:c.-908= | N/A | 5 Prime UTR Variant |
| MLH1 transcript variant 2 | NM_001167617.3:c.-479= | N/A | 5 Prime UTR Variant |
| MLH1 transcript variant 14 | NM_001354621.2:c.-1006= | N/A | 5 Prime UTR Variant |
| MLH1 transcript variant 7 | NM_001258274.3:c.-1058= | N/A | 5 Prime UTR Variant |
| MLH1 transcript variant 17 | NM_001354624.2:c.-789= | N/A | 5 Prime UTR Variant |
| MLH1 transcript variant 12 | NM_001354619.2:c.-1037= | N/A | 5 Prime UTR Variant |
| MLH1 transcript variant 15 | NM_001354622.2:c.-1119= | N/A | 5 Prime UTR Variant |
| MLH1 transcript variant 1 | NM_000249.4:c.38dup | E [GAG] > E [GAAG] | Coding Sequence Variant |
| DNA mismatch repair protein Mlh1 isoform 1 | NP_000240.1:p.Thr14fs | E (Glu) > E (Glu) | Frameshift Variant |
| MLH1 transcript variant 1 | NM_000249.4:c.38_39insCCCA | E [GAG] > D [GACCCAG] | Coding Sequence Variant |
| DNA mismatch repair protein Mlh1 isoform 1 | NP_000240.1:p.Glu13fs | E (Glu) > D (Asp) | Frameshift Variant |
| MLH1 transcript variant 22 | NM_001354629.2:c.38dup | E [GAG] > E [GAAG] | Coding Sequence Variant |
| DNA mismatch repair protein Mlh1 isoform 8 | NP_001341558.1:p.Thr14fs | E (Glu) > E (Glu) | Frameshift Variant |
| MLH1 transcript variant 22 |
NM_001354629.2:c.38_39ins… NM_001354629.2:c.38_39insCCCA |
E [GAG] > D [GACCCAG] | Coding Sequence Variant |
| DNA mismatch repair protein Mlh1 isoform 8 | NP_001341558.1:p.Glu13fs | E (Glu) > D (Asp) | Frameshift Variant |
| MLH1 transcript variant 21 | NM_001354628.2:c.38dup | E [GAG] > E [GAAG] | Coding Sequence Variant |
| DNA mismatch repair protein Mlh1 isoform 7 | NP_001341557.1:p.Thr14fs | E (Glu) > E (Glu) | Frameshift Variant |
| MLH1 transcript variant 21 |
NM_001354628.2:c.38_39ins… NM_001354628.2:c.38_39insCCCA |
E [GAG] > D [GACCCAG] | Coding Sequence Variant |
| DNA mismatch repair protein Mlh1 isoform 7 | NP_001341557.1:p.Glu13fs | E (Glu) > D (Asp) | Frameshift Variant |
| MLH1 transcript variant 23 | NM_001354630.2:c.38dup | E [GAG] > E [GAAG] | Coding Sequence Variant |
| DNA mismatch repair protein Mlh1 isoform 9 | NP_001341559.1:p.Thr14fs | E (Glu) > E (Glu) | Frameshift Variant |
| MLH1 transcript variant 23 |
NM_001354630.2:c.38_39ins… NM_001354630.2:c.38_39insCCCA |
E [GAG] > D [GACCCAG] | Coding Sequence Variant |
| DNA mismatch repair protein Mlh1 isoform 9 | NP_001341559.1:p.Glu13fs | E (Glu) > D (Asp) | Frameshift Variant |
| MLH1 transcript variant 5 | NM_001258271.2:c.38dup | E [GAG] > E [GAAG] | Coding Sequence Variant |
| DNA mismatch repair protein Mlh1 isoform 4 | NP_001245200.1:p.Thr14fs | E (Glu) > E (Glu) | Frameshift Variant |
| MLH1 transcript variant 5 |
NM_001258271.2:c.38_39ins… NM_001258271.2:c.38_39insCCCA |
E [GAG] > D [GACCCAG] | Coding Sequence Variant |
| DNA mismatch repair protein Mlh1 isoform 4 | NP_001245200.1:p.Glu13fs | E (Glu) > D (Asp) | Frameshift Variant |
| MLH1 transcript variant X5 |
XM_047448155.1:c.-603+101… XM_047448155.1:c.-603+101dup |
N/A | Intron Variant |
| MLH1 transcript variant X1 | XM_047448152.1:c. | N/A | Genic Upstream Transcript Variant |
| MLH1 transcript variant X3 | XM_047448153.1:c. | N/A | Genic Upstream Transcript Variant |
| MLH1 transcript variant X4 | XM_047448154.1:c. | N/A | Genic Upstream Transcript Variant |
| MLH1 transcript variant X2 | XM_005265161.3:c.38dup | E [GAG] > E [GAAG] | Coding Sequence Variant |
| DNA mismatch repair protein Mlh1 isoform X2 | XP_005265218.1:p.Thr14fs | E (Glu) > E (Glu) | Frameshift Variant |
| MLH1 transcript variant X2 |
XM_005265161.3:c.38_39ins… XM_005265161.3:c.38_39insCCCA |
E [GAG] > D [GACCCAG] | Coding Sequence Variant |
| DNA mismatch repair protein Mlh1 isoform X2 | XP_005265218.1:p.Glu13fs | E (Glu) > D (Asp) | Frameshift Variant |
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| EPM2AIP1 transcript | NM_014805.4:c. | N/A | Upstream Transcript Variant |
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.
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000234014.1 | Lynch syndrome | Pathogenic |
| RCV001380004.1 | Hereditary nonpolyposis colorectal neoplasms | Pathogenic |
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000075695.2 | Lynch syndrome | Pathogenic |
| RCV000479728.3 | not provided | Pathogenic |
| RCV001235123.2 | Hereditary nonpolyposis colorectal neoplasms | Pathogenic |
| RCV001357978.1 | Carcinoma of colon | Pathogenic |
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 | A= | dupA | insCCCA |
|---|---|---|---|
| GRCh38.p14 chr 3 | NC_000003.12:g.36993585= | NC_000003.12:g.36993585dup | NC_000003.12:g.36993585_36993586insCCCA |
| GRCh37.p13 chr 3 | NC_000003.11:g.37035076= | NC_000003.11:g.37035076dup | NC_000003.11:g.37035076_37035077insCCCA |
| MLH1 RefSeqGene (LRG_216) | NG_007109.2:g.5236= | NG_007109.2:g.5236dup | NG_007109.2:g.5236_5237insCCCA |
| MLH1 transcript variant 1 | NM_000249.4:c.38= | NM_000249.4:c.38dup | NM_000249.4:c.38_39insCCCA |
| MLH1 transcript variant 1 | NM_000249.3:c.38= | NM_000249.3:c.38dup | NM_000249.3:c.38_39insCCCA |
| MLH1 transcript variant 7 | NM_001258274.3:c.-1058= | NM_001258274.3:c.-1058dup | NM_001258274.3:c.-1058_-1057insCCCA |
| MLH1 transcript variant 7 | NM_001258274.2:c.-1058= | NM_001258274.2:c.-1058dup | NM_001258274.2:c.-1058_-1057insCCCA |
| MLH1 transcript variant 3 | NM_001167618.3:c.-908= | NM_001167618.3:c.-908dup | NM_001167618.3:c.-908_-907insCCCA |
| MLH1 transcript variant 3 | NM_001167618.2:c.-908= | NM_001167618.2:c.-908dup | NM_001167618.2:c.-908_-907insCCCA |
| MLH1 transcript variant 2 | NM_001167617.3:c.-479= | NM_001167617.3:c.-479dup | NM_001167617.3:c.-479_-478insCCCA |
| MLH1 transcript variant 2 | NM_001167617.2:c.-479= | NM_001167617.2:c.-479dup | NM_001167617.2:c.-479_-478insCCCA |
| MLH1 transcript variant 4 | NM_001167619.3:c.-821= | NM_001167619.3:c.-821dup | NM_001167619.3:c.-821_-820insCCCA |
| MLH1 transcript variant 4 | NM_001167619.2:c.-821= | NM_001167619.2:c.-821dup | NM_001167619.2:c.-821_-820insCCCA |
| MLH1 transcript variant 12 | NM_001354619.2:c.-1037= | NM_001354619.2:c.-1037dup | NM_001354619.2:c.-1037_-1036insCCCA |
| MLH1 transcript variant 12 | NM_001354619.1:c.-1037= | NM_001354619.1:c.-1037dup | NM_001354619.1:c.-1037_-1036insCCCA |
| MLH1 transcript variant 11 | NM_001354618.2:c.-913= | NM_001354618.2:c.-913dup | NM_001354618.2:c.-913_-912insCCCA |
| MLH1 transcript variant 11 | NM_001354618.1:c.-913= | NM_001354618.1:c.-913dup | NM_001354618.1:c.-913_-912insCCCA |
| MLH1 transcript variant 15 | NM_001354622.2:c.-1119= | NM_001354622.2:c.-1119dup | NM_001354622.2:c.-1119_-1118insCCCA |
| MLH1 transcript variant 15 | NM_001354622.1:c.-1119= | NM_001354622.1:c.-1119dup | NM_001354622.1:c.-1119_-1118insCCCA |
| MLH1 transcript variant 16 | NM_001354623.2:c.-1028= | NM_001354623.2:c.-1028dup | NM_001354623.2:c.-1028_-1027insCCCA |
| MLH1 transcript variant 16 | NM_001354623.1:c.-1028= | NM_001354623.1:c.-1028dup | NM_001354623.1:c.-1028_-1027insCCCA |
| MLH1 transcript variant 14 | NM_001354621.2:c.-1006= | NM_001354621.2:c.-1006dup | NM_001354621.2:c.-1006_-1005insCCCA |
| MLH1 transcript variant 14 | NM_001354621.1:c.-1006= | NM_001354621.1:c.-1006dup | NM_001354621.1:c.-1006_-1005insCCCA |
| MLH1 transcript variant 10 | NM_001354617.2:c.-681= | NM_001354617.2:c.-681dup | NM_001354617.2:c.-681_-680insCCCA |
| MLH1 transcript variant 10 | NM_001354617.1:c.-681= | NM_001354617.1:c.-681dup | NM_001354617.1:c.-681_-680insCCCA |
| MLH1 transcript variant 13 | NM_001354620.2:c.-247= | NM_001354620.2:c.-247dup | NM_001354620.2:c.-247_-246insCCCA |
| MLH1 transcript variant 13 | NM_001354620.1:c.-247= | NM_001354620.1:c.-247dup | NM_001354620.1:c.-247_-246insCCCA |
| MLH1 transcript variant 20 | NM_001354627.2:c.-1016= | NM_001354627.2:c.-1016dup | NM_001354627.2:c.-1016_-1015insCCCA |
| MLH1 transcript variant 20 | NM_001354627.1:c.-1016= | NM_001354627.1:c.-1016dup | NM_001354627.1:c.-1016_-1015insCCCA |
| MLH1 transcript variant 6 | NM_001258273.2:c.-595= | NM_001258273.2:c.-595dup | NM_001258273.2:c.-595_-594insCCCA |
| MLH1 transcript variant 6 | NM_001258273.1:c.-595= | NM_001258273.1:c.-595dup | NM_001258273.1:c.-595_-594insCCCA |
| MLH1 transcript variant 21 | NM_001354628.2:c.38= | NM_001354628.2:c.38dup | NM_001354628.2:c.38_39insCCCA |
| MLH1 transcript variant 21 | NM_001354628.1:c.38= | NM_001354628.1:c.38dup | NM_001354628.1:c.38_39insCCCA |
| MLH1 transcript variant 9 | NM_001354616.2:c.-589= | NM_001354616.2:c.-589dup | NM_001354616.2:c.-589_-588insCCCA |
| MLH1 transcript variant 9 | NM_001354616.1:c.-589= | NM_001354616.1:c.-589dup | NM_001354616.1:c.-589_-588insCCCA |
| MLH1 transcript variant 8 | NM_001354615.2:c.-589= | NM_001354615.2:c.-589dup | NM_001354615.2:c.-589_-588insCCCA |
| MLH1 transcript variant 8 | NM_001354615.1:c.-589= | NM_001354615.1:c.-589dup | NM_001354615.1:c.-589_-588insCCCA |
| MLH1 transcript variant 22 | NM_001354629.2:c.38= | NM_001354629.2:c.38dup | NM_001354629.2:c.38_39insCCCA |
| MLH1 transcript variant 22 | NM_001354629.1:c.38= | NM_001354629.1:c.38dup | NM_001354629.1:c.38_39insCCCA |
| MLH1 transcript variant 23 | NM_001354630.2:c.38= | NM_001354630.2:c.38dup | NM_001354630.2:c.38_39insCCCA |
| MLH1 transcript variant 23 | NM_001354630.1:c.38= | NM_001354630.1:c.38dup | NM_001354630.1:c.38_39insCCCA |
| MLH1 transcript variant 5 | NM_001258271.2:c.38= | NM_001258271.2:c.38dup | NM_001258271.2:c.38_39insCCCA |
| MLH1 transcript variant 5 | NM_001258271.1:c.38= | NM_001258271.1:c.38dup | NM_001258271.1:c.38_39insCCCA |
| MLH1 transcript variant 17 | NM_001354624.2:c.-789= | NM_001354624.2:c.-789dup | NM_001354624.2:c.-789_-788insCCCA |
| MLH1 transcript variant 17 | NM_001354624.1:c.-789= | NM_001354624.1:c.-789dup | NM_001354624.1:c.-789_-788insCCCA |
| MLH1 transcript variant 19 | NM_001354626.2:c.-784= | NM_001354626.2:c.-784dup | NM_001354626.2:c.-784_-783insCCCA |
| MLH1 transcript variant 19 | NM_001354626.1:c.-784= | NM_001354626.1:c.-784dup | NM_001354626.1:c.-784_-783insCCCA |
| MLH1 transcript variant 18 | NM_001354625.2:c.-687= | NM_001354625.2:c.-687dup | NM_001354625.2:c.-687_-686insCCCA |
| MLH1 transcript variant 18 | NM_001354625.1:c.-687= | NM_001354625.1:c.-687dup | NM_001354625.1:c.-687_-686insCCCA |
| EPM2AIP1 RefSeqGene | NG_008418.1:g.4720= | NG_008418.1:g.4720dup | NG_008418.1:g.4720_4721insGGGT |
| MLH1 transcript variant X2 | XM_005265161.3:c.38= | XM_005265161.3:c.38dup | XM_005265161.3:c.38_39insCCCA |
| MLH1 transcript variant X1 | XM_005265161.2:c.38= | XM_005265161.2:c.38dup | XM_005265161.2:c.38_39insCCCA |
| MLH1 transcript variant X1 | XM_005265161.1:c.38= | XM_005265161.1:c.38dup | XM_005265161.1:c.38_39insCCCA |
| DNA mismatch repair protein Mlh1 isoform 1 | NP_000240.1:p.Glu13= | NP_000240.1:p.Thr14fs | NP_000240.1:p.Glu13fs |
| DNA mismatch repair protein Mlh1 isoform 7 | NP_001341557.1:p.Glu13= | NP_001341557.1:p.Thr14fs | NP_001341557.1:p.Glu13fs |
| DNA mismatch repair protein Mlh1 isoform 8 | NP_001341558.1:p.Glu13= | NP_001341558.1:p.Thr14fs | NP_001341558.1:p.Glu13fs |
| DNA mismatch repair protein Mlh1 isoform 9 | NP_001341559.1:p.Glu13= | NP_001341559.1:p.Thr14fs | NP_001341559.1:p.Glu13fs |
| DNA mismatch repair protein Mlh1 isoform 4 | NP_001245200.1:p.Glu13= | NP_001245200.1:p.Thr14fs | NP_001245200.1:p.Glu13fs |
| DNA mismatch repair protein Mlh1 isoform X2 | XP_005265218.1:p.Glu13= | XP_005265218.1:p.Thr14fs | XP_005265218.1:p.Glu13fs |
| MLH1 transcript variant X5 | XM_047448155.1:c.-603+101= | XM_047448155.1:c.-603+101dup | XM_047448155.1:c.-603+101_-603+102insCCCA |
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#.
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | MMR_WOODS | ss538293323 | Oct 24, 2012 (137) |
| 2 | CLINVAR | ss2019321935 | Jul 01, 2016 (147) |
| 3 | ClinVar | RCV000075695.2 | Oct 12, 2018 (152) |
| 4 | ClinVar | RCV000234014.1 | Oct 12, 2018 (152) |
| 5 | ClinVar | RCV000479728.3 | Oct 13, 2022 (156) |
| 6 | ClinVar | RCV001235123.2 | Oct 13, 2022 (156) |
| 7 | ClinVar | RCV001357978.1 | Oct 13, 2022 (156) |
| 8 | ClinVar | RCV001380004.1 | Oct 13, 2022 (156) |
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).
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| RCV000234014.1, RCV001380004.1 | NC_000003.12:36993584:A:AA | NC_000003.12:36993584:A:AA | (self) |
| ss2019321935 | NC_000003.12:36993585::A | NC_000003.12:36993584:A:AA | (self) |
| RCV000075695.2, RCV000479728.3, RCV001235123.2, RCV001357978.1 | NC_000003.12:36993584:A:ACCCA | NC_000003.12:36993584:A:ACCCA | (self) |
| ss538293323 | NC_000003.12:36993585::CCCA | NC_000003.12:36993584:A:ACCCA | (self) |
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
No publications for rs63750057
The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.
Genomic regions, transcripts, and products
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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.