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rs80359270

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;A) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359270(-;-)
Make rs80359270(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position32332711
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359270
ebirs80359270
HLIrs80359270
Exacrs80359270
Varsomers80359270
Maprs80359270
PheGenIrs80359270
hapmaprs80359270
1000 genomesrs80359270
hgdprs80359270
ensemblrs80359270
gopubmedrs80359270
geneviewrs80359270
scholarrs80359270
googlers80359270
pharmgkbrs80359270
gwascentralrs80359270
openSNPrs80359270
23andMers80359270
23andMe allrs80359270
SNP Nexus

SNPshotrs80359270
SNPdbers80359270
MSV3drs80359270
GWAS Ctlgrs80359270
Max Magnitude6
rs80359270, also known as 1461insA, c.1233_1234insA and p.Ile411_Pro412?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359270(A;A)
Alt rs80359270(A;A)
Reference rs80359270(;)
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.32906848dupA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000043763.2, RCV000112898.1,