rs62625303

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
google	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,