rs80356903

Orientation

minus

Stabilized

minus

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

Make rs80356903(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43091813

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80356903
dbSNP (classic)	rs80356903
ClinGen	rs80356903
ebi	rs80356903
HLI	rs80356903
Exac	rs80356903
Gnomad	rs80356903
Varsome	rs80356903
LitVar	rs80356903
Map	rs80356903
PheGenI	rs80356903
Biobank	rs80356903
1000 genomes	rs80356903
hgdp	rs80356903
ensembl	rs80356903
geneview	rs80356903
scholar	rs80356903
google	rs80356903
pharmgkb	rs80356903
gwascentral	rs80356903
openSNP	rs80356903
23andMe	rs80356903
SNPshot	rs80356903
SNPdbe	rs80356903
MSV3d	rs80356903
GWAS Ctlg	rs80356903

Max Magnitude

6

rs80356903, also known as Q1240X, c.3718C>T and p.Gln1240Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80356903(T;T)
Alt	rs80356903(T;T)
Reference	Rs80356903(C;C)
Significance	Pathogenic
Disease	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation	info
Gene	BRCA1
CLNDBN	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome
Reversed	1
HGVS	NC_000017.10:g.41243830G>A
CLNSRC	ClinVar
CLNACC	RCV000048301.5, RCV000077554.5, RCV000162866.2,