rs80358763

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	6	BRCA2 variant considered pathogenic for breast cancer

Make rs80358763(T;T)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32339759

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80358763
dbSNP (classic)	rs80358763
ClinGen	rs80358763
ebi	rs80358763
HLI	rs80358763
Exac	rs80358763
Gnomad	rs80358763
Varsome	rs80358763
LitVar	rs80358763
Map	rs80358763
PheGenI	rs80358763
Biobank	rs80358763
1000 genomes	rs80358763
hgdp	rs80358763
ensembl	rs80358763
geneview	rs80358763
scholar	rs80358763
google	rs80358763
pharmgkb	rs80358763
gwascentral	rs80358763
openSNP	rs80358763
23andMe	rs80358763
SNPshot	rs80358763
SNPdbe	rs80358763
MSV3d	rs80358763
GWAS Ctlg	rs80358763

Max Magnitude

6

rs80358763, also known as Q1802X, c.5404C>T and p.Gln1802Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80358763(T;T)
Alt	rs80358763(T;T)
Reference	Rs80358763(C;C)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer
Variation	info
Gene	BRCA2
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 2
Reversed	0
HGVS	NC_000013.10:g.32913896C>T
CLNSRC	ClinVar
CLNACC	RCV000044653.2, RCV000113426.2,