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rs80359575

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;AG) 6 BRCA2 variant considered pathogenic for breast cancer
(AG;AG) 0 common in clinvar


Make rs80359575(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32329445
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359575
ebirs80359575
HLIrs80359575
Exacrs80359575
Varsomers80359575
Maprs80359575
PheGenIrs80359575
hapmaprs80359575
1000 genomesrs80359575
hgdprs80359575
ensemblrs80359575
gopubmedrs80359575
geneviewrs80359575
scholarrs80359575
googlers80359575
pharmgkbrs80359575
gwascentralrs80359575
openSNPrs80359575
23andMers80359575
23andMe allrs80359575
SNP Nexus

SNPshotrs80359575
SNPdbers80359575
MSV3drs80359575
GWAS Ctlgrs80359575
Max Magnitude6
rs80359575, also known as 862delAG, c.634_635delAG and p.Arg212Lysfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359575(;)
Alt rs80359575(;)
Reference rs80359575(AG;AG)
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.32903583_32903584delGA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044920.2, RCV000076962.3,