rs80357279

Orientation

minus

Stabilized

minus

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

Make rs80357279(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43094132

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357279
dbSNP (classic)	rs80357279
ClinGen	rs80357279
ebi	rs80357279
HLI	rs80357279
Exac	rs80357279
Gnomad	rs80357279
Varsome	rs80357279
LitVar	rs80357279
Map	rs80357279
PheGenI	rs80357279
Biobank	rs80357279
1000 genomes	rs80357279
hgdp	rs80357279
ensembl	rs80357279
geneview	rs80357279
scholar	rs80357279
google	rs80357279
pharmgkb	rs80357279
gwascentral	rs80357279
openSNP	rs80357279
23andMe	rs80357279
SNPshot	rs80357279
SNPdbe	rs80357279
MSV3d	rs80357279
GWAS Ctlg	rs80357279

Max Magnitude

6

rs80357279, also known as K467X, c.1399A>T and p.Lys467Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357279(C;C) rs80357279(T;T)
Alt	rs80357279(C;C) rs80357279(T;T)
Reference	Rs80357279(A;A)
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.41246149T>A
CLNSRC	ClinVar
CLNACC	RCV000047463.2, RCV000111608.2,