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rs80359409

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;A) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359409(-;-)
Make rs80359409(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position32338215
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359409
ebirs80359409
HLIrs80359409
Exacrs80359409
Varsomers80359409
Maprs80359409
PheGenIrs80359409
hapmaprs80359409
1000 genomesrs80359409
hgdprs80359409
ensemblrs80359409
gopubmedrs80359409
geneviewrs80359409
scholarrs80359409
googlers80359409
pharmgkbrs80359409
gwascentralrs80359409
openSNPrs80359409
23andMers80359409
23andMe allrs80359409
SNP Nexus

SNPshotrs80359409
SNPdbers80359409
MSV3drs80359409
GWAS Ctlgrs80359409
Max Magnitude6
rs80359409, also known as 4088insA, c.3860_3861insA and p.Asn1287?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359409(A;A)
Alt rs80359409(A;A)
Reference rs80359409(;)
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.32912352dupA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044289.3, RCV000113229.1,