rs80356953

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;C)	6	BRCA1 variant considered pathogenic for breast cancer
(C;C)	0	common in clinvar
(C;G)	6	BRCA1 variant considered pathogenic for breast cancer

Make rs80356953(G;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43074519

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80356953
dbSNP (classic)	rs80356953
ClinGen	rs80356953
ebi	rs80356953
HLI	rs80356953
Exac	rs80356953
Gnomad	rs80356953
Varsome	rs80356953
LitVar	rs80356953
Map	rs80356953
PheGenI	rs80356953
Biobank	rs80356953
1000 genomes	rs80356953
hgdp	rs80356953
ensembl	rs80356953
geneview	rs80356953
scholar	rs80356953
google	rs80356953
pharmgkb	rs80356953
gwascentral	rs80356953
openSNP	rs80356953
23andMe	rs80356953
SNPshot	rs80356953
SNPdbe	rs80356953
MSV3d	rs80356953
GWAS Ctlg	rs80356953

Max Magnitude

6

rs80356953, also known as S1496X, c.4487C>G and p.Ser1496Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80356953(A;A) rs80356953(G;G)
Alt	rs80356953(A;A) rs80356953(G;G)
Reference	Rs80356953(C;C)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed	1
HGVS	NC_000017.10:g.41226536G>C; NC_000017.10:g.41226536G>T
CLNSRC	ClinVar
CLNACC	RCV000048580.2, RCV000112348.2, RCV000048579.2, RCV000112347.2,