rs80359210

Orientation

plus

Stabilized

plus

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

Make rs80359210(T;T)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32394808

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359210
dbSNP (classic)	rs80359210
ClinGen	rs80359210
ebi	rs80359210
HLI	rs80359210
Exac	rs80359210
Gnomad	rs80359210
Varsome	rs80359210
LitVar	rs80359210
Map	rs80359210
PheGenI	rs80359210
Biobank	rs80359210
1000 genomes	rs80359210
hgdp	rs80359210
ensembl	rs80359210
geneview	rs80359210
scholar	rs80359210
google	rs80359210
pharmgkb	rs80359210
gwascentral	rs80359210
openSNP	rs80359210
23andMe	rs80359210
SNPshot	rs80359210
SNPdbe	rs80359210
MSV3d	rs80359210
GWAS Ctlg	rs80359210

Max Magnitude

6

rs80359210, also known as Q3126X, c.9376C>T and p.Gln3126Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80359210(T;T)
Alt	rs80359210(T;T)
Reference	Rs80359210(C;C)
Significance	Pathogenic
Disease	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer
Variation	info
Gene	BRCA2
CLNDBN	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2
Reversed	0
HGVS	NC_000013.10:g.32968945C>T
CLNSRC	ClinVar
CLNACC	RCV000045805.5, RCV000114100.3,