rs80356992

Orientation

minus

Stabilized

minus

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

Make rs80356992(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43074394

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80356992
dbSNP (classic)	rs80356992
ClinGen	rs80356992
ebi	rs80356992
HLI	rs80356992
Exac	rs80356992
Gnomad	rs80356992
Varsome	rs80356992
LitVar	rs80356992
Map	rs80356992
PheGenI	rs80356992
Biobank	rs80356992
1000 genomes	rs80356992
hgdp	rs80356992
ensembl	rs80356992
geneview	rs80356992
scholar	rs80356992
google	rs80356992
pharmgkb	rs80356992
gwascentral	rs80356992
openSNP	rs80356992
23andMe	rs80356992
SNPshot	rs80356992
SNPdbe	rs80356992
MSV3d	rs80356992
GWAS Ctlg	rs80356992

Max Magnitude

6

rs80356992, also known as Q1538X, c.4612C>T and p.Gln1538Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80356992(T;T)
Alt	rs80356992(T;T)
Reference	Rs80356992(C;C)
Significance	Pathogenic
Disease	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer not provided
Variation	info
Gene	BRCA1
CLNDBN	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 not provided
Reversed	1
HGVS	NC_000017.10:g.41226411G>A
CLNSRC	ClinVar
CLNACC	RCV000048606.4, RCV000077579.6, RCV000420125.1,