rs80357350

Orientation

minus

Stabilized

minus

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

Make rs80357350(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43104928

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357350
dbSNP (classic)	rs80357350
ClinGen	rs80357350
ebi	rs80357350
HLI	rs80357350
Exac	rs80357350
Gnomad	rs80357350
Varsome	rs80357350
LitVar	rs80357350
Map	rs80357350
PheGenI	rs80357350
Biobank	rs80357350
1000 genomes	rs80357350
hgdp	rs80357350
ensembl	rs80357350
geneview	rs80357350
scholar	rs80357350
google	rs80357350
pharmgkb	rs80357350
gwascentral	rs80357350
openSNP	rs80357350
23andMe	rs80357350
SNPshot	rs80357350
SNPdbe	rs80357350
MSV3d	rs80357350
GWAS Ctlg	rs80357350

Max Magnitude

6

rs80357350, also known as Q81X, c.241C>T and p.Gln81Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357350(T;T)
Alt	rs80357350(T;T)
Reference	Rs80357350(C;C)
Significance	Pathogenic
Disease	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer
Variation	info
Gene	BRCA1
CLNDBN	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1
Reversed	1
HGVS	NC_000017.10:g.41256945G>A
CLNSRC	ClinVar
CLNACC	RCV000047834.3, RCV000112105.4,