rs80357427

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 rs80357427(G;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43094002

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357427
dbSNP (classic)	rs80357427
ClinGen	rs80357427
ebi	rs80357427
HLI	rs80357427
Exac	rs80357427
Gnomad	rs80357427
Varsome	rs80357427
LitVar	rs80357427
Map	rs80357427
PheGenI	rs80357427
Biobank	rs80357427
1000 genomes	rs80357427
hgdp	rs80357427
ensembl	rs80357427
geneview	rs80357427
scholar	rs80357427
google	rs80357427
pharmgkb	rs80357427
gwascentral	rs80357427
openSNP	rs80357427
23andMe	rs80357427
SNPshot	rs80357427
SNPdbe	rs80357427
MSV3d	rs80357427
GWAS Ctlg	rs80357427

Max Magnitude

6

rs80357427, also known as S510X, c.1529C>G and p.Ser510Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357427(A;A) rs80357427(G;G)
Alt	rs80357427(A;A) rs80357427(G;G)
Reference	Rs80357427(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.41246019G>C; NC_000017.10:g.41246019G>T
CLNSRC	ClinVar
CLNACC	RCV000047515.2, RCV000111643.3, RCV000257869.2,