rs80359230

Orientation

plus

Stabilized

plus

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

Make rs80359230(G;G)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32396995

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359230
dbSNP (classic)	rs80359230
ClinGen	rs80359230
ebi	rs80359230
HLI	rs80359230
Exac	rs80359230
Gnomad	rs80359230
Varsome	rs80359230
LitVar	rs80359230
Map	rs80359230
PheGenI	rs80359230
Biobank	rs80359230
1000 genomes	rs80359230
hgdp	rs80359230
ensembl	rs80359230
geneview	rs80359230
scholar	rs80359230
google	rs80359230
pharmgkb	rs80359230
gwascentral	rs80359230
openSNP	rs80359230
23andMe	rs80359230
SNPshot	rs80359230
SNPdbe	rs80359230
MSV3d	rs80359230
GWAS Ctlg	rs80359230

Max Magnitude

6

rs80359230, also known as S3200X, c.9599C>G and p.Ser3200Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80359230(G;G)
Alt	rs80359230(G;G)
Reference	Rs80359230(C;C)
Significance	Pathogenic
Disease	Breast-ovarian cancer Familial cancer of breast
Variation	info
Gene	BRCA2
CLNDBN	Breast-ovarian cancer, familial 2 Familial cancer of breast
Reversed	0
HGVS	NC_000013.10:g.32971132C>G
CLNSRC	ClinVar
CLNACC	RCV000031836.5, RCV000045864.2,