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rs80359377

From SNPedia

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


Make rs80359377(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32337554
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359377
ebirs80359377
HLIrs80359377
Exacrs80359377
Varsomers80359377
Maprs80359377
PheGenIrs80359377
hapmaprs80359377
1000 genomesrs80359377
hgdprs80359377
ensemblrs80359377
gopubmedrs80359377
geneviewrs80359377
scholarrs80359377
googlers80359377
pharmgkbrs80359377
gwascentralrs80359377
openSNPrs80359377
23andMers80359377
23andMe allrs80359377
SNP Nexus

SNPshotrs80359377
SNPdbers80359377
MSV3drs80359377
GWAS Ctlgrs80359377
Max Magnitude6
rs80359377, also known as 3427delA, c.3199_3199delA and p.Thr1067Leufs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359377(;)
Alt rs80359377(;)
Reference rs80359377(A;A)
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.32911691delA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044145.2, RCV000077296.3,