rs80357239

Orientation

minus

Stabilized

minus

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

Make rs80357239(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43063372

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357239
dbSNP (classic)	rs80357239
ClinGen	rs80357239
ebi	rs80357239
HLI	rs80357239
Exac	rs80357239
Gnomad	rs80357239
Varsome	rs80357239
LitVar	rs80357239
Map	rs80357239
PheGenI	rs80357239
Biobank	rs80357239
1000 genomes	rs80357239
hgdp	rs80357239
ensembl	rs80357239
geneview	rs80357239
scholar	rs80357239
google	rs80357239
pharmgkb	rs80357239
gwascentral	rs80357239
openSNP	rs80357239
23andMe	rs80357239
SNPshot	rs80357239
SNPdbe	rs80357239
MSV3d	rs80357239
GWAS Ctlg	rs80357239

Max Magnitude

6

rs80357239, also known as W1718X, c.5154G>A and p.Trp1718Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357239(A;A) rs80357239(T;T)
Alt	rs80357239(A;A) rs80357239(T;T)
Reference	Rs80357239(G;G)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome not provided
Reversed	1
HGVS	NC_000017.10:g.41215389C>A; NC_000017.10:g.41215389C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000048833.2, RCV000112539.1, RCV000129752.2, RCV000482189.1, RCV000048832.4, RCV000077604.5, RCV000212195.1,