rs80357343

Orientation

minus

Stabilized

minus

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

Make rs80357343(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43091567

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357343
dbSNP (classic)	rs80357343
ClinGen	rs80357343
ebi	rs80357343
HLI	rs80357343
Exac	rs80357343
Gnomad	rs80357343
Varsome	rs80357343
LitVar	rs80357343
Map	rs80357343
PheGenI	rs80357343
Biobank	rs80357343
1000 genomes	rs80357343
hgdp	rs80357343
ensembl	rs80357343
geneview	rs80357343
scholar	rs80357343
google	rs80357343
pharmgkb	rs80357343
gwascentral	rs80357343
openSNP	rs80357343
23andMe	rs80357343
SNPshot	rs80357343
SNPdbe	rs80357343
MSV3d	rs80357343
GWAS Ctlg	rs80357343

Max Magnitude

6

rs80357343, also known as K1322X, c.3964A>T and p.Lys1322Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357343(C;C) rs80357343(G;G) rs80357343(T;T)
Alt	rs80357343(C;C) rs80357343(G;G) rs80357343(T;T)
Reference	Rs80357343(A;A)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome
Reversed	1
HGVS	NC_000017.10:g.41243584T>A; NC_000017.10:g.41243584T>C; NC_000017.10:g.41243584T>G
CLNSRC	ClinVar
CLNACC	RCV000048390.2, RCV000112218.2, RCV000217442.1, RCV000220524.1,