rs80357392

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 rs80357392(G;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43094731

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357392
dbSNP (classic)	rs80357392
ClinGen	rs80357392
ebi	rs80357392
HLI	rs80357392
Exac	rs80357392
Gnomad	rs80357392
Varsome	rs80357392
LitVar	rs80357392
Map	rs80357392
PheGenI	rs80357392
Biobank	rs80357392
1000 genomes	rs80357392
hgdp	rs80357392
ensembl	rs80357392
geneview	rs80357392
scholar	rs80357392
google	rs80357392
pharmgkb	rs80357392
gwascentral	rs80357392
openSNP	rs80357392
23andMe	rs80357392
SNPshot	rs80357392
SNPdbe	rs80357392
MSV3d	rs80357392
GWAS Ctlg	rs80357392

Max Magnitude

6

rs80357392, also known as S267X, c.800C>G and p.Ser267Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357392(G;G)
Alt	rs80357392(G;G)
Reference	Rs80357392(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.41246748G>C
CLNSRC	ClinVar
CLNACC	RCV000049146.2, RCV000112791.3,