rs62625308

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	Normal
(C;T)	6	BRCA1 variant considered pathogenic for breast cancer

Make rs62625308(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43091924

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs62625308
dbSNP (classic)	rs62625308
ClinGen	rs62625308
ebi	rs62625308
HLI	rs62625308
Exac	rs62625308
Gnomad	rs62625308
Varsome	rs62625308
LitVar	rs62625308
Map	rs62625308
PheGenI	rs62625308
Biobank	rs62625308
1000 genomes	rs62625308
hgdp	rs62625308
ensembl	rs62625308
geneview	rs62625308
scholar	rs62625308
google	rs62625308
pharmgkb	rs62625308
gwascentral	rs62625308
openSNP	rs62625308
23andMe	rs62625308
SNPshot	rs62625308
SNPdbe	rs62625308
MSV3d	rs62625308
GWAS Ctlg	rs62625308

Max Magnitude

6

rs62625308, also known as R1203X, c.3607C>T and p.Arg1203Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

23andMe name: i5005571

OMIM	113705
Desc
Variant	0012
Related	also

ClinVar
Risk	rs62625308(G;G) rs62625308(T;T)
Alt	rs62625308(G;G) rs62625308(T;T)
Reference	Rs62625308(C;C)
Significance	Pathogenic
Disease	Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome Neoplasm of breast not provided Familial cancer of breast
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome Neoplasm of breast not provided Familial cancer of breast
Reversed	1
HGVS	NC_000017.10:g.41243941G>A; NC_000017.10:g.41243941G>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000019240.13, RCV000048251.7, RCV000131818.3, RCV000148389.1, RCV000159978.3, RCV000239343.1, RCV000048250.2, RCV000112133.1,