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rs80359382

From SNPedia

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


Make rs80359382(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32337628
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359382
ebirs80359382
HLIrs80359382
Exacrs80359382
Varsomers80359382
Maprs80359382
PheGenIrs80359382
hapmaprs80359382
1000 genomesrs80359382
hgdprs80359382
ensemblrs80359382
gopubmedrs80359382
geneviewrs80359382
scholarrs80359382
googlers80359382
pharmgkbrs80359382
gwascentralrs80359382
openSNPrs80359382
23andMers80359382
23andMe allrs80359382
SNP Nexus

SNPshotrs80359382
SNPdbers80359382
MSV3drs80359382
GWAS Ctlgrs80359382
Max Magnitude6
rs80359382, also known as 3501del4, c.3273_3276delATTT and p.Leu1091_Phe1092?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359382(;)
Alt rs80359382(;)
Reference rs80359382(TTAT;TTAT)
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.32911765_32911768delATTT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044168.2, RCV000113157.1,