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rs80359567

From SNPedia

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


Make rs80359567(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340571
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359567
ebirs80359567
HLIrs80359567
Exacrs80359567
Varsomers80359567
Maprs80359567
PheGenIrs80359567
hapmaprs80359567
1000 genomesrs80359567
hgdprs80359567
ensemblrs80359567
gopubmedrs80359567
geneviewrs80359567
scholarrs80359567
googlers80359567
pharmgkbrs80359567
gwascentralrs80359567
openSNPrs80359567
23andMers80359567
23andMe allrs80359567
SNP Nexus

SNPshotrs80359567
SNPdbers80359567
MSV3drs80359567
GWAS Ctlgrs80359567
Max Magnitude6
rs80359567, also known as 6444delC, c.6216_6216delC and p.Ser2072=fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359567(;)
Alt rs80359567(;)
Reference rs80359567(C;C)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000013.10:g.32914708delC
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044873.2, RCV000113549.1, RCV000129977.2,