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rs80359434

From SNPedia

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


Make rs80359434(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32338543
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359434
ebirs80359434
HLIrs80359434
Exacrs80359434
Varsomers80359434
Maprs80359434
PheGenIrs80359434
hapmaprs80359434
1000 genomesrs80359434
hgdprs80359434
ensemblrs80359434
gopubmedrs80359434
geneviewrs80359434
scholarrs80359434
googlers80359434
pharmgkbrs80359434
gwascentralrs80359434
openSNPrs80359434
23andMers80359434
23andMe allrs80359434
SNP Nexus

SNPshotrs80359434
SNPdbers80359434
MSV3drs80359434
GWAS Ctlgrs80359434
Max Magnitude6
rs80359434, also known as 4416delA, c.4188_4188delA and p.Gln1396=fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359434(;)
Alt rs80359434(;)
Reference rs80359434(A;A)
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.32912680delA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044369.2, RCV000077321.3, RCV000132340.2,