rs80357071

Orientation

minus

Stabilized

minus

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

Make rs80357071(G;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43090981

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357071
dbSNP (classic)	rs80357071
ClinGen	rs80357071
ebi	rs80357071
HLI	rs80357071
Exac	rs80357071
Gnomad	rs80357071
Varsome	rs80357071
LitVar	rs80357071
Map	rs80357071
PheGenI	rs80357071
Biobank	rs80357071
1000 genomes	rs80357071
hgdp	rs80357071
ensembl	rs80357071
geneview	rs80357071
scholar	rs80357071
google	rs80357071
pharmgkb	rs80357071
gwascentral	rs80357071
openSNP	rs80357071
23andMe	rs80357071
SNPshot	rs80357071
SNPdbe	rs80357071
MSV3d	rs80357071
GWAS Ctlg	rs80357071

Max Magnitude

6

rs80357071, also known as S1383X, c.4148C>G and p.Ser1383Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357071(G;G) rs80357071(T;T)
Alt	rs80357071(G;G) rs80357071(T;T)
Reference	Rs80357071(C;C)
Significance	Pathogenic
Disease	not specified Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation	info
Gene	BRCA1
CLNDBN	not specified Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome
Reversed	1
HGVS	NC_000017.10:g.41242998G>A; NC_000017.10:g.41242998G>C
CLNSRC	ClinVar
CLNACC	RCV000483963.1, RCV000048458.2, RCV000112270.3, RCV000213696.1,