rs62625303
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 6 | BRCA1 variant considered pathogenic for breast cancer |
Make rs62625303(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 43094060 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs62625303 |
dbSNP (classic) | rs62625303 |
ClinGen | rs62625303 |
ebi | rs62625303 |
HLI | rs62625303 |
Exac | rs62625303 |
Gnomad | rs62625303 |
Varsome | rs62625303 |
LitVar | rs62625303 |
Map | rs62625303 |
PheGenI | rs62625303 |
Biobank | rs62625303 |
1000 genomes | rs62625303 |
hgdp | rs62625303 |
ensembl | rs62625303 |
geneview | rs62625303 |
scholar | rs62625303 |
rs62625303 | |
pharmgkb | rs62625303 |
gwascentral | rs62625303 |
openSNP | rs62625303 |
23andMe | rs62625303 |
SNPshot | rs62625303 |
SNPdbe | rs62625303 |
MSV3d | rs62625303 |
GWAS Ctlg | rs62625303 |
Max Magnitude | 6 |
rs62625303, also known as Q491X, c.1471C>T and p.Gln491Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs62625303(T;T) |
Alt | rs62625303(T;T) |
Reference | Rs62625303(C;C) |
Significance | Pathogenic |
Disease | Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | BRCA1 |
CLNDBN | Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome |
Reversed | 1 |
HGVS | NC_000017.10:g.41246077G>A |
CLNSRC | Ambry Genetics ClinVar |
CLNACC | RCV000047488.2, RCV000111626.5, RCV000131842.3, |