rs80357130

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 rs80357130(G;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43076602

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357130
dbSNP (classic)	rs80357130
ClinGen	rs80357130
ebi	rs80357130
HLI	rs80357130
Exac	rs80357130
Gnomad	rs80357130
Varsome	rs80357130
LitVar	rs80357130
Map	rs80357130
PheGenI	rs80357130
Biobank	rs80357130
1000 genomes	rs80357130
hgdp	rs80357130
ensembl	rs80357130
geneview	rs80357130
scholar	rs80357130
google	rs80357130
pharmgkb	rs80357130
gwascentral	rs80357130
openSNP	rs80357130
23andMe	rs80357130
SNPshot	rs80357130
SNPdbe	rs80357130
MSV3d	rs80357130
GWAS Ctlg	rs80357130

Max Magnitude

6

rs80357130, also known as S1457X, c.4370C>G and p.Ser1457Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357130(A;A) rs80357130(G;G)
Alt	rs80357130(A;A) rs80357130(G;G)
Reference	Rs80357130(C;C)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome
Reversed	1
HGVS	NC_000017.10:g.41228619G>C; NC_000017.10:g.41228619G>T
CLNSRC	ClinVar
CLNACC	RCV000048539.2, RCV000112327.2, RCV000225938.1,