rs56329598

Orientation

minus

Stabilized

minus

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

Make rs56329598(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43093316

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs56329598
dbSNP (classic)	rs56329598
ClinGen	rs56329598
ebi	rs56329598
HLI	rs56329598
Exac	rs56329598
Gnomad	rs56329598
Varsome	rs56329598
LitVar	rs56329598
Map	rs56329598
PheGenI	rs56329598
Biobank	rs56329598
1000 genomes	rs56329598
hgdp	rs56329598
ensembl	rs56329598
geneview	rs56329598
scholar	rs56329598
google	rs56329598
pharmgkb	rs56329598
gwascentral	rs56329598
openSNP	rs56329598
23andMe	rs56329598
SNPshot	rs56329598
SNPdbe	rs56329598
MSV3d	rs56329598
GWAS Ctlg	rs56329598

Max Magnitude

6

rs56329598, also known as K739X, c.2215A>T and p.Lys739Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs56329598(G;G) rs56329598(T;T)
Alt	rs56329598(G;G) rs56329598(T;T)
Reference	Rs56329598(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.41245333T>A
CLNSRC	ClinVar
CLNACC	RCV000047763.2, RCV000111795.3,