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rs80359419

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;A) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359419(-;-)
Make rs80359419(A;A)
ReferenceGRCh38 38.1/142
Chromosome13
Position32338361
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359419
ebirs80359419
HLIrs80359419
Exacrs80359419
Varsomers80359419
Maprs80359419
PheGenIrs80359419
hapmaprs80359419
1000 genomesrs80359419
hgdprs80359419
ensemblrs80359419
gopubmedrs80359419
geneviewrs80359419
scholarrs80359419
googlers80359419
pharmgkbrs80359419
gwascentralrs80359419
openSNPrs80359419
23andMers80359419
23andMe allrs80359419
SNP Nexus

SNPshotrs80359419
SNPdbers80359419
MSV3drs80359419
GWAS Ctlgrs80359419
Max Magnitude6
rs80359419, also known as 4234insA, c.4006_4007insA and p.Phe1336?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359419(A;A)
Alt rs80359419(A;A)
Reference rs80359419(;)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32912498_32912499insA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000113258.1,