rs80357385

Orientation

minus

Stabilized

minus

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

Make rs80357385(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43094390

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357385
dbSNP (classic)	rs80357385
ClinGen	rs80357385
ebi	rs80357385
HLI	rs80357385
Exac	rs80357385
Gnomad	rs80357385
Varsome	rs80357385
LitVar	rs80357385
Map	rs80357385
PheGenI	rs80357385
Biobank	rs80357385
1000 genomes	rs80357385
hgdp	rs80357385
ensembl	rs80357385
geneview	rs80357385
scholar	rs80357385
google	rs80357385
pharmgkb	rs80357385
gwascentral	rs80357385
openSNP	rs80357385
23andMe	rs80357385
SNPshot	rs80357385
SNPdbe	rs80357385
MSV3d	rs80357385
GWAS Ctlg	rs80357385

Max Magnitude

6

rs80357385, also known as K381X, c.1141A>T and p.Lys381Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357385(T;T)
Alt	rs80357385(T;T)
Reference	Rs80357385(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.41246407T>A
CLNSRC	ClinVar
CLNACC	RCV000047359.2, RCV000111561.3,