rs80357303

Orientation

minus

Stabilized

minus

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

Make rs80357303(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43071113

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357303
dbSNP (classic)	rs80357303
ClinGen	rs80357303
ebi	rs80357303
HLI	rs80357303
Exac	rs80357303
Gnomad	rs80357303
Varsome	rs80357303
LitVar	rs80357303
Map	rs80357303
PheGenI	rs80357303
Biobank	rs80357303
1000 genomes	rs80357303
hgdp	rs80357303
ensembl	rs80357303
geneview	rs80357303
scholar	rs80357303
google	rs80357303
pharmgkb	rs80357303
gwascentral	rs80357303
openSNP	rs80357303
23andMe	rs80357303
SNPshot	rs80357303
SNPdbe	rs80357303
MSV3d	rs80357303
GWAS Ctlg	rs80357303

Max Magnitude

6

rs80357303, also known as K1601X, c.4801A>T and p.Lys1601Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357303(C;C) rs80357303(T;T)
Alt	rs80357303(C;C) rs80357303(T;T)
Reference	Rs80357303(A;A)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer Neoplasm of breast
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 1 Neoplasm of breast
Reversed	1
HGVS	NC_000017.10:g.41223130T>A
CLNSRC	ClinVar
CLNACC	RCV000048662.2, RCV000077587.5, RCV000240804.1,