rs80357282

Orientation

minus

Stabilized

minus

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

Make rs80357282(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43093691

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357282
dbSNP (classic)	rs80357282
ClinGen	rs80357282
ebi	rs80357282
HLI	rs80357282
Exac	rs80357282
Gnomad	rs80357282
Varsome	rs80357282
LitVar	rs80357282
Map	rs80357282
PheGenI	rs80357282
Biobank	rs80357282
1000 genomes	rs80357282
hgdp	rs80357282
ensembl	rs80357282
geneview	rs80357282
scholar	rs80357282
google	rs80357282
pharmgkb	rs80357282
gwascentral	rs80357282
openSNP	rs80357282
23andMe	rs80357282
SNPshot	rs80357282
SNPdbe	rs80357282
MSV3d	rs80357282
GWAS Ctlg	rs80357282

Max Magnitude

6

rs80357282, also known as K614X, c.1840A>T and p.Lys614Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357282(C;C) rs80357282(T;T)
Alt	rs80357282(C;C) rs80357282(T;T)
Reference	Rs80357282(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.41245708T>A
CLNSRC	ClinVar
CLNACC	RCV000047607.2, RCV000111698.3,