Skip to main page content
Accesskeys

dbSNP Short Genetic Variations

Reference SNP (rs) Report

Alpha

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.

rs1057519895

Current Build 151

Released July 17, 2018

Organism
Homo sapiens
Position
chr4:152328232 (GRCh38.p7) 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
C>A / C>G / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.00000 (0/227420, GnomAD)
Clinical Significance
Reported in ClinVar
Gene : Consequence
FBXW7 : Missense Variant
Publications
1 citation
Genomic View
See rs on genome
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.p7 chr 4 NC_000004.12:g.152328232C>A
GRCh38.p7 chr 4 NC_000004.12:g.152328232C>G
GRCh38.p7 chr 4 NC_000004.12:g.152328232C>T
GRCh37.p13 chr 4 NC_000004.11:g.153249384C>A
GRCh37.p13 chr 4 NC_000004.11:g.153249384C>G
GRCh37.p13 chr 4 NC_000004.11:g.153249384C>T
FBXW7 RefSeqGene NG_029466.1:g.211789G>T
FBXW7 RefSeqGene NG_029466.1:g.211789G>C
FBXW7 RefSeqGene NG_029466.1:g.211789G>A
Gene: FBXW7, F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase (minus strand)
Molecule type Change Amino acid[Codon] SO Term
FBXW7 transcript variant 4 NM_001257069.1:c. N/A Genic Downstream Transcript Variant
FBXW7 transcript variant 3 NM_001013415.1:c....

NM_001013415.1:c.1040G>T

R [CGT] > L [CTT] Coding Sequence Variant
F-box/WD repeat-containing protein 7 isoform 3 NP_001013433.1:p....

NP_001013433.1:p.Arg347Leu

R (Arg) > L (Leu) Missense Variant
FBXW7 transcript variant 3 NM_001013415.1:c....

NM_001013415.1:c.1040G>C

R [CGT] > P [CCT] Coding Sequence Variant
F-box/WD repeat-containing protein 7 isoform 3 NP_001013433.1:p....

NP_001013433.1:p.Arg347Pro

R (Arg) > P (Pro) Missense Variant
FBXW7 transcript variant 3 NM_001013415.1:c....

NM_001013415.1:c.1040G>A

R [CGT] > H [CAT] Coding Sequence Variant
F-box/WD repeat-containing protein 7 isoform 3 NP_001013433.1:p....

NP_001013433.1:p.Arg347His

R (Arg) > H (His) Missense Variant
FBXW7 transcript variant 2 NM_018315.4:c.115...

NM_018315.4:c.1154G>T

R [CGT] > L [CTT] Coding Sequence Variant
F-box/WD repeat-containing protein 7 isoform 2 NP_060785.2:p.Arg...

NP_060785.2:p.Arg385Leu

R (Arg) > L (Leu) Missense Variant
FBXW7 transcript variant 2 NM_018315.4:c.115...

NM_018315.4:c.1154G>C

R [CGT] > P [CCT] Coding Sequence Variant
F-box/WD repeat-containing protein 7 isoform 2 NP_060785.2:p.Arg...

NP_060785.2:p.Arg385Pro

R (Arg) > P (Pro) Missense Variant
FBXW7 transcript variant 2 NM_018315.4:c.115...

NM_018315.4:c.1154G>A

R [CGT] > H [CAT] Coding Sequence Variant
F-box/WD repeat-containing protein 7 isoform 2 NP_060785.2:p.Arg...

NP_060785.2:p.Arg385His

R (Arg) > H (His) Missense Variant
FBXW7 transcript variant 1 NM_033632.3:c.139...

NM_033632.3:c.1394G>T

R [CGT] > L [CTT] Coding Sequence Variant
F-box/WD repeat-containing protein 7 isoform 1 NP_361014.1:p.Arg...

NP_361014.1:p.Arg465Leu

R (Arg) > L (Leu) Missense Variant
FBXW7 transcript variant 1 NM_033632.3:c.139...

NM_033632.3:c.1394G>C

R [CGT] > P [CCT] Coding Sequence Variant
F-box/WD repeat-containing protein 7 isoform 1 NP_361014.1:p.Arg...

NP_361014.1:p.Arg465Pro

R (Arg) > P (Pro) Missense Variant
FBXW7 transcript variant 1 NM_033632.3:c.139...

NM_033632.3:c.1394G>A

R [CGT] > H [CAT] Coding Sequence Variant
F-box/WD repeat-containing protein 7 isoform 1 NP_361014.1:p.Arg...

NP_361014.1:p.Arg465His

R (Arg) > H (His) Missense Variant
FBXW7 transcript variant X1 XM_011532083.1:c....

XM_011532083.1:c.1394G>T

R [CGT] > L [CTT] Coding Sequence Variant
F-box/WD repeat-containing protein 7 isoform X1 XP_011530385.1:p....

XP_011530385.1:p.Arg465Leu

R (Arg) > L (Leu) Missense Variant
FBXW7 transcript variant X1 XM_011532083.1:c....

XM_011532083.1:c.1394G>C

R [CGT] > P [CCT] Coding Sequence Variant
F-box/WD repeat-containing protein 7 isoform X1 XP_011530385.1:p....

XP_011530385.1:p.Arg465Pro

R (Arg) > P (Pro) Missense Variant
FBXW7 transcript variant X1 XM_011532083.1:c....

XM_011532083.1:c.1394G>A

R [CGT] > H [CAT] Coding Sequence Variant
F-box/WD repeat-containing protein 7 isoform X1 XP_011530385.1:p....

XP_011530385.1:p.Arg465His

R (Arg) > H (His) Missense Variant
FBXW7 transcript variant X3 XM_011532084.1:c....

XM_011532084.1:c.1394G>T

R [CGT] > L [CTT] Coding Sequence Variant
F-box/WD repeat-containing protein 7 isoform X1 XP_011530386.1:p....

XP_011530386.1:p.Arg465Leu

R (Arg) > L (Leu) Missense Variant
FBXW7 transcript variant X3 XM_011532084.1:c....

XM_011532084.1:c.1394G>C

R [CGT] > P [CCT] Coding Sequence Variant
F-box/WD repeat-containing protein 7 isoform X1 XP_011530386.1:p....

XP_011530386.1:p.Arg465Pro

R (Arg) > P (Pro) Missense Variant
FBXW7 transcript variant X3 XM_011532084.1:c....

XM_011532084.1:c.1394G>A

R [CGT] > H [CAT] Coding Sequence Variant
F-box/WD repeat-containing protein 7 isoform X1 XP_011530386.1:p....

XP_011530386.1:p.Arg465His

R (Arg) > H (His) Missense Variant
FBXW7 transcript variant X4 XM_011532085.1:c....

XM_011532085.1:c.1394G>T

R [CGT] > L [CTT] Coding Sequence Variant
F-box/WD repeat-containing protein 7 isoform X1 XP_011530387.1:p....

XP_011530387.1:p.Arg465Leu

R (Arg) > L (Leu) Missense Variant
FBXW7 transcript variant X4 XM_011532085.1:c....

XM_011532085.1:c.1394G>C

R [CGT] > P [CCT] Coding Sequence Variant
F-box/WD repeat-containing protein 7 isoform X1 XP_011530387.1:p....

XP_011530387.1:p.Arg465Pro

R (Arg) > P (Pro) Missense Variant
FBXW7 transcript variant X4 XM_011532085.1:c....

XM_011532085.1:c.1394G>A

R [CGT] > H [CAT] Coding Sequence Variant
F-box/WD repeat-containing protein 7 isoform X1 XP_011530387.1:p....

XP_011530387.1:p.Arg465His

R (Arg) > H (His) Missense Variant
FBXW7 transcript variant X5 XM_011532086.1:c....

XM_011532086.1:c.1310G>T

R [CGT] > L [CTT] Coding Sequence Variant
F-box/WD repeat-containing protein 7 isoform X2 XP_011530388.1:p....

XP_011530388.1:p.Arg437Leu

R (Arg) > L (Leu) Missense Variant
FBXW7 transcript variant X5 XM_011532086.1:c....

XM_011532086.1:c.1310G>C

R [CGT] > P [CCT] Coding Sequence Variant
F-box/WD repeat-containing protein 7 isoform X2 XP_011530388.1:p....

XP_011530388.1:p.Arg437Pro

R (Arg) > P (Pro) Missense Variant
FBXW7 transcript variant X5 XM_011532086.1:c....

XM_011532086.1:c.1310G>A

R [CGT] > H [CAT] Coding Sequence Variant
F-box/WD repeat-containing protein 7 isoform X2 XP_011530388.1:p....

XP_011530388.1:p.Arg437His

R (Arg) > H (His) Missense Variant
FBXW7 transcript variant X6 XM_011532087.1:c....

XM_011532087.1:c.1310G>T

R [CGT] > L [CTT] Coding Sequence Variant
F-box/WD repeat-containing protein 7 isoform X2 XP_011530389.1:p....

XP_011530389.1:p.Arg437Leu

R (Arg) > L (Leu) Missense Variant
FBXW7 transcript variant X6 XM_011532087.1:c....

XM_011532087.1:c.1310G>C

R [CGT] > P [CCT] Coding Sequence Variant
F-box/WD repeat-containing protein 7 isoform X2 XP_011530389.1:p....

XP_011530389.1:p.Arg437Pro

R (Arg) > P (Pro) Missense Variant
FBXW7 transcript variant X6 XM_011532087.1:c....

XM_011532087.1:c.1310G>A

R [CGT] > H [CAT] Coding Sequence Variant
F-box/WD repeat-containing protein 7 isoform X2 XP_011530389.1:p....

XP_011530389.1:p.Arg437His

R (Arg) > H (His) Missense Variant
FBXW7 transcript variant X7 XM_011532088.1:c....

XM_011532088.1:c.893G>T

R [CGT] > L [CTT] Coding Sequence Variant
F-box/WD repeat-containing protein 7 isoform X3 XP_011530390.1:p....

XP_011530390.1:p.Arg298Leu

R (Arg) > L (Leu) Missense Variant
FBXW7 transcript variant X7 XM_011532088.1:c....

XM_011532088.1:c.893G>C

R [CGT] > P [CCT] Coding Sequence Variant
F-box/WD repeat-containing protein 7 isoform X3 XP_011530390.1:p....

XP_011530390.1:p.Arg298Pro

R (Arg) > P (Pro) Missense Variant
FBXW7 transcript variant X7 XM_011532088.1:c....

XM_011532088.1:c.893G>A

R [CGT] > H [CAT] Coding Sequence Variant
F-box/WD repeat-containing protein 7 isoform X3 XP_011530390.1:p....

XP_011530390.1:p.Arg298His

R (Arg) > H (His) Missense Variant
FBXW7 transcript variant X2 XM_017008362.1:c....

XM_017008362.1:c.1394G>T

R [CGT] > L [CTT] Coding Sequence Variant
F-box/WD repeat-containing protein 7 isoform X1 XP_016863851.1:p....

XP_016863851.1:p.Arg465Leu

R (Arg) > L (Leu) Missense Variant
FBXW7 transcript variant X2 XM_017008362.1:c....

XM_017008362.1:c.1394G>C

R [CGT] > P [CCT] Coding Sequence Variant
F-box/WD repeat-containing protein 7 isoform X1 XP_016863851.1:p....

XP_016863851.1:p.Arg465Pro

R (Arg) > P (Pro) Missense Variant
FBXW7 transcript variant X2 XM_017008362.1:c....

XM_017008362.1:c.1394G>A

R [CGT] > H [CAT] Coding Sequence Variant
F-box/WD repeat-containing protein 7 isoform X1 XP_016863851.1:p....

XP_016863851.1:p.Arg465His

R (Arg) > H (His) Missense Variant
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: A (allele ID: 363296 )
ClinVar Accession Disease Names Clinical Significance
RCV000419727.1 Adenocarcinoma of stomach Likely-Pathogenic
RCV000421731.1 Squamous cell lung carcinoma Likely-Pathogenic
RCV000422964.1 Adenoid cystic carcinoma Likely-Pathogenic
RCV000423635.1 Uterine Carcinosarcoma Likely-Pathogenic
RCV000425901.1 Malignant neoplasm of body of uterus Likely-Pathogenic
RCV000430408.1 Carcinoma of esophagus Likely-Pathogenic
RCV000431029.1 Squamous cell carcinoma of the head and neck Likely-Pathogenic
RCV000431539.1 Medulloblastoma Likely-Pathogenic
RCV000434382.1 Chronic lymphocytic leukemia Likely-Pathogenic
RCV000436100.1 Neoplasm of the breast Likely-Pathogenic
RCV000440224.1 Colorectal Neoplasms Likely-Pathogenic
RCV000441781.1 Ovarian Serous Cystadenocarcinoma Likely-Pathogenic
RCV000443518.1 Lung adenocarcinoma Likely-Pathogenic
RCV000443662.1 Uterine cervical neoplasms Likely-Pathogenic
Allele: G (allele ID: 363295 )
ClinVar Accession Disease Names Clinical Significance
RCV000417428.1 Uterine Carcinosarcoma Likely-Pathogenic
RCV000418970.1 Ovarian Serous Cystadenocarcinoma Likely-Pathogenic
RCV000422698.1 Neoplasm of the breast Likely-Pathogenic
RCV000424610.1 Squamous cell lung carcinoma Likely-Pathogenic
RCV000424801.1 Colorectal Neoplasms Likely-Pathogenic
RCV000427741.1 Chronic lymphocytic leukemia Likely-Pathogenic
RCV000428799.1 Lung adenocarcinoma Likely-Pathogenic
RCV000433446.1 Medulloblastoma Likely-Pathogenic
RCV000434066.1 Adenoid cystic carcinoma Likely-Pathogenic
RCV000435527.1 Adenocarcinoma of stomach Likely-Pathogenic
RCV000436201.1 Malignant neoplasm of body of uterus Likely-Pathogenic
RCV000440831.1 Uterine cervical neoplasms Likely-Pathogenic
RCV000442912.1 Squamous cell carcinoma of the head and neck Likely-Pathogenic
RCV000443932.1 Carcinoma of esophagus Likely-Pathogenic
Allele: T (allele ID: 363294 )
ClinVar Accession Disease Names Clinical Significance
RCV000417744.1 Lung adenocarcinoma Likely-Pathogenic
RCV000417975.1 Chronic lymphocytic leukemia Likely-Pathogenic
RCV000420844.1 Adenoid cystic carcinoma Likely-Pathogenic
RCV000422069.1 Colorectal Neoplasms Likely-Pathogenic
RCV000426392.1 Adenocarcinoma of stomach Likely-Pathogenic
RCV000427168.1 Uterine cervical neoplasms Likely-Pathogenic
RCV000428675.1 Medulloblastoma Likely-Pathogenic
RCV000429314.1 Uterine Carcinosarcoma Likely-Pathogenic
RCV000433642.1 Squamous cell lung carcinoma Likely-Pathogenic
RCV000437827.1 Neoplasm of the breast Likely-Pathogenic
RCV000437932.1 Carcinoma of esophagus Likely-Pathogenic
RCV000438452.1 Squamous cell carcinoma of the head and neck Likely-Pathogenic
RCV000439989.1 Ovarian Serous Cystadenocarcinoma Likely-Pathogenic
RCV000443195.1 Malignant neoplasm of body of uterus Likely-Pathogenic
Help

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
The Genome Aggregation Database Global Study-wide 227420 C=1.00000 T=0.00000
The Genome Aggregation Database European Sub 127880 C=1.00000 T=0.00000
The Genome Aggregation Database Asian Sub 42534 C=1.0000 T=0.0000
The Genome Aggregation Database American Sub 28958 C=1.0000 T=0.0000
The Genome Aggregation Database African Sub 13684 C=1.0000 T=0.0000
The Genome Aggregation Database Ashkenazi Jewish Sub 9424 C=1.000 T=0.000
The Genome Aggregation Database Other Sub 4940 C=1.000 T=0.000
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 C= A G T Note
GRCh38.p7 chr 4 NC_000004.12:...

NC_000004.12:g.152328232C=

NC_000004.12:...

NC_000004.12:g.152328232C>A

NC_000004.12:...

NC_000004.12:g.152328232C>G

NC_000004.12:...

NC_000004.12:g.152328232C>T

GRCh37.p13 chr 4 NC_000004.11:...

NC_000004.11:g.153249384C=

NC_000004.11:...

NC_000004.11:g.153249384C>A

NC_000004.11:...

NC_000004.11:g.153249384C>G

NC_000004.11:...

NC_000004.11:g.153249384C>T

FBXW7 RefSeqGene NG_029466.1:g...

NG_029466.1:g.211789G=

NG_029466.1:g...

NG_029466.1:g.211789G>T

NG_029466.1:g...

NG_029466.1:g.211789G>C

NG_029466.1:g...

NG_029466.1:g.211789G>A

FBXW7 transcript variant 2 NM_018315.4:c...

NM_018315.4:c.1154G=

NM_018315.4:c...

NM_018315.4:c.1154G>T

NM_018315.4:c...

NM_018315.4:c.1154G>C

NM_018315.4:c...

NM_018315.4:c.1154G>A

FBXW7 transcript variant 1 NM_033632.3:c...

NM_033632.3:c.1394G=

NM_033632.3:c...

NM_033632.3:c.1394G>T

NM_033632.3:c...

NM_033632.3:c.1394G>C

NM_033632.3:c...

NM_033632.3:c.1394G>A

FBXW7 transcript variant 3 NM_001013415....

NM_001013415.1:c.1040G=

NM_001013415....

NM_001013415.1:c.1040G>T

NM_001013415....

NM_001013415.1:c.1040G>C

NM_001013415....

NM_001013415.1:c.1040G>A

FBXW7 transcript variant X2 XM_017008362....

XM_017008362.1:c.1394G=

XM_017008362....

XM_017008362.1:c.1394G>T

XM_017008362....

XM_017008362.1:c.1394G>C

XM_017008362....

XM_017008362.1:c.1394G>A

FBXW7 transcript variant X5 XM_011532086....

XM_011532086.1:c.1310G=

XM_011532086....

XM_011532086.1:c.1310G>T

XM_011532086....

XM_011532086.1:c.1310G>C

XM_011532086....

XM_011532086.1:c.1310G>A

FBXW7 transcript variant X6 XM_011532087....

XM_011532087.1:c.1310G=

XM_011532087....

XM_011532087.1:c.1310G>T

XM_011532087....

XM_011532087.1:c.1310G>C

XM_011532087....

XM_011532087.1:c.1310G>A

FBXW7 transcript variant X1 XM_011532083....

XM_011532083.1:c.1394G=

XM_011532083....

XM_011532083.1:c.1394G>T

XM_011532083....

XM_011532083.1:c.1394G>C

XM_011532083....

XM_011532083.1:c.1394G>A

FBXW7 transcript variant X3 XM_011532084....

XM_011532084.1:c.1394G=

XM_011532084....

XM_011532084.1:c.1394G>T

XM_011532084....

XM_011532084.1:c.1394G>C

XM_011532084....

XM_011532084.1:c.1394G>A

FBXW7 transcript variant X4 XM_011532085....

XM_011532085.1:c.1394G=

XM_011532085....

XM_011532085.1:c.1394G>T

XM_011532085....

XM_011532085.1:c.1394G>C

XM_011532085....

XM_011532085.1:c.1394G>A

FBXW7 transcript variant X7 XM_011532088....

XM_011532088.1:c.893G=

XM_011532088....

XM_011532088.1:c.893G>T

XM_011532088....

XM_011532088.1:c.893G>C

XM_011532088....

XM_011532088.1:c.893G>A

F-box/WD repeat-containing protein 7 isoform 2 NP_060785.2:p...

NP_060785.2:p.Arg385=

NP_060785.2:p...

NP_060785.2:p.Arg385Leu

NP_060785.2:p...

NP_060785.2:p.Arg385Pro

NP_060785.2:p...

NP_060785.2:p.Arg385His

F-box/WD repeat-containing protein 7 isoform 1 NP_361014.1:p...

NP_361014.1:p.Arg465=

NP_361014.1:p...

NP_361014.1:p.Arg465Leu

NP_361014.1:p...

NP_361014.1:p.Arg465Pro

NP_361014.1:p...

NP_361014.1:p.Arg465His

F-box/WD repeat-containing protein 7 isoform 3 NP_001013433....

NP_001013433.1:p.Arg347=

NP_001013433....

NP_001013433.1:p.Arg347Leu

NP_001013433....

NP_001013433.1:p.Arg347Pro

NP_001013433....

NP_001013433.1:p.Arg347His

F-box/WD repeat-containing protein 7 isoform X1 XP_016863851....

XP_016863851.1:p.Arg465=

XP_016863851....

XP_016863851.1:p.Arg465Leu

XP_016863851....

XP_016863851.1:p.Arg465Pro

XP_016863851....

XP_016863851.1:p.Arg465His

F-box/WD repeat-containing protein 7 isoform X2 XP_011530388....

XP_011530388.1:p.Arg437=

XP_011530388....

XP_011530388.1:p.Arg437Leu

XP_011530388....

XP_011530388.1:p.Arg437Pro

XP_011530388....

XP_011530388.1:p.Arg437His

F-box/WD repeat-containing protein 7 isoform X2 XP_011530389....

XP_011530389.1:p.Arg437=

XP_011530389....

XP_011530389.1:p.Arg437Leu

XP_011530389....

XP_011530389.1:p.Arg437Pro

XP_011530389....

XP_011530389.1:p.Arg437His

F-box/WD repeat-containing protein 7 isoform X1 XP_011530385....

XP_011530385.1:p.Arg465=

XP_011530385....

XP_011530385.1:p.Arg465Leu

XP_011530385....

XP_011530385.1:p.Arg465Pro

XP_011530385....

XP_011530385.1:p.Arg465His

F-box/WD repeat-containing protein 7 isoform X1 XP_011530386....

XP_011530386.1:p.Arg465=

XP_011530386....

XP_011530386.1:p.Arg465Leu

XP_011530386....

XP_011530386.1:p.Arg465Pro

XP_011530386....

XP_011530386.1:p.Arg465His

F-box/WD repeat-containing protein 7 isoform X1 XP_011530387....

XP_011530387.1:p.Arg465=

XP_011530387....

XP_011530387.1:p.Arg465Leu

XP_011530387....

XP_011530387.1:p.Arg465Pro

XP_011530387....

XP_011530387.1:p.Arg465His

F-box/WD repeat-containing protein 7 isoform X3 XP_011530390....

XP_011530390.1:p.Arg298=

XP_011530390....

XP_011530390.1:p.Arg298Leu

XP_011530390....

XP_011530390.1:p.Arg298Pro

XP_011530390....

XP_011530390.1:p.Arg298His

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#.

1 Frequency, 7 SubSNP, 42 ClinVar submissions
No Submitter Submission ID Date (Build)
1 CLINVAR ss2137498235 Apr 13, 2017 (150)
2 CLINVAR ss2137498236 Apr 13, 2017 (150)
3 CLINVAR ss2137498237 Apr 13, 2017 (150)
4 CLINVAR ss2137504631 Apr 18, 2017 (150)
5 CLINVAR ss2137504632 Apr 18, 2017 (150)
6 CLINVAR ss2137504633 Apr 18, 2017 (150)
7 GNOMAD ss2734776147 Nov 08, 2017 (151)
8 The Genome Aggregation Database NC_000004.11 - 153249384 Jul 20, 2018 (151)
9 ClinVar RCV000417428.1 Jul 20, 2018 (151)
10 ClinVar RCV000417744.1 Jul 20, 2018 (151)
11 ClinVar RCV000417975.1 Jul 20, 2018 (151)
12 ClinVar RCV000418970.1 Jul 20, 2018 (151)
13 ClinVar RCV000419727.1 Jul 20, 2018 (151)
14 ClinVar RCV000420844.1 Jul 20, 2018 (151)
15 ClinVar RCV000421731.1 Jul 20, 2018 (151)
16 ClinVar RCV000422069.1 Jul 20, 2018 (151)
17 ClinVar RCV000422698.1 Jul 20, 2018 (151)
18 ClinVar RCV000422964.1 Jul 20, 2018 (151)
19 ClinVar RCV000423635.1 Jul 20, 2018 (151)
20 ClinVar RCV000424610.1 Jul 20, 2018 (151)
21 ClinVar RCV000424801.1 Jul 20, 2018 (151)
22 ClinVar RCV000425901.1 Jul 20, 2018 (151)
23 ClinVar RCV000426392.1 Jul 20, 2018 (151)
24 ClinVar RCV000427168.1 Jul 20, 2018 (151)
25 ClinVar RCV000427741.1 Jul 20, 2018 (151)
26 ClinVar RCV000428675.1 Jul 20, 2018 (151)
27 ClinVar RCV000428799.1 Jul 20, 2018 (151)
28 ClinVar RCV000429314.1 Jul 20, 2018 (151)
29 ClinVar RCV000430408.1 Jul 20, 2018 (151)
30 ClinVar RCV000431029.1 Jul 20, 2018 (151)
31 ClinVar RCV000431539.1 Jul 20, 2018 (151)
32 ClinVar RCV000433446.1 Jul 20, 2018 (151)
33 ClinVar RCV000433642.1 Jul 20, 2018 (151)
34 ClinVar RCV000434066.1 Jul 20, 2018 (151)
35 ClinVar RCV000434382.1 Jul 20, 2018 (151)
36 ClinVar RCV000435527.1 Jul 20, 2018 (151)
37 ClinVar RCV000436100.1 Jul 20, 2018 (151)
38 ClinVar RCV000436201.1 Jul 20, 2018 (151)
39 ClinVar RCV000437827.1 Jul 20, 2018 (151)
40 ClinVar RCV000437932.1 Jul 20, 2018 (151)
41 ClinVar RCV000438452.1 Jul 20, 2018 (151)
42 ClinVar RCV000439989.1 Jul 20, 2018 (151)
43 ClinVar RCV000440224.1 Jul 20, 2018 (151)
44 ClinVar RCV000440831.1 Jul 20, 2018 (151)
45 ClinVar RCV000441781.1 Jul 20, 2018 (151)
46 ClinVar RCV000442912.1 Jul 20, 2018 (151)
47 ClinVar RCV000443195.1 Jul 20, 2018 (151)
48 ClinVar RCV000443518.1 Jul 20, 2018 (151)
49 ClinVar RCV000443662.1 Jul 20, 2018 (151)
50 ClinVar RCV000443932.1 Jul 20, 2018 (151)
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
3790882, ss2734776147 NC_000004.11:153249383:C= NC_000004.12:152328231:C= (self)
ss2137498235, ss2137498236, ss2137498237, ss2137504631, ss2137504632, ss2137504633 NC_000004.12:152328231:C= NC_000004.12:152328231:C= (self)
RCV000419727.1, RCV000421731.1, RCV000422964.1, RCV000423635.1, RCV000425901.1, RCV000430408.1, RCV000431029.1, RCV000431539.1, RCV000434382.1, RCV000436100.1, RCV000440224.1, RCV000441781.1, RCV000443518.1, RCV000443662.1, ss2137498237, ss2137504633 NC_000004.12:152328231:C>A NC_000004.12:152328231:C>A (self)
RCV000417428.1, RCV000418970.1, RCV000422698.1, RCV000424610.1, RCV000424801.1, RCV000427741.1, RCV000428799.1, RCV000433446.1, RCV000434066.1, RCV000435527.1, RCV000436201.1, RCV000440831.1, RCV000442912.1, RCV000443932.1, ss2137498236, ss2137504632 NC_000004.12:152328231:C>G NC_000004.12:152328231:C>G (self)
3790882, ss2734776147 NC_000004.11:153249383:C>T NC_000004.12:152328231:C>T (self)
RCV000417744.1, RCV000417975.1, RCV000420844.1, RCV000422069.1, RCV000426392.1, RCV000427168.1, RCV000428675.1, RCV000429314.1, RCV000433642.1, RCV000437827.1, RCV000437932.1, RCV000438452.1, RCV000439989.1, RCV000443195.1, ss2137498235, ss2137504631 NC_000004.12:152328231:C>T NC_000004.12:152328231:C>T (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

1 citation for rs1057519895
PMID Title Author Year Journal
26619011 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. Chang MT et al. 2016 Nature biotechnology

Genomic regions, transcripts, and products
Top 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.

Software version is: 0.1.4.post833+d3ba21e