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rs80359435

From SNPedia

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


Make rs80359435(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32338573
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359435
ebirs80359435
HLIrs80359435
Exacrs80359435
Varsomers80359435
Maprs80359435
PheGenIrs80359435
hapmaprs80359435
1000 genomesrs80359435
hgdprs80359435
ensemblrs80359435
gopubmedrs80359435
geneviewrs80359435
scholarrs80359435
googlers80359435
pharmgkbrs80359435
gwascentralrs80359435
openSNPrs80359435
23andMers80359435
23andMe allrs80359435
SNP Nexus

SNPshotrs80359435
SNPdbers80359435
MSV3drs80359435
GWAS Ctlgrs80359435
Max Magnitude6
rs80359435, also known as 4446del4, c.4218_4221delAGAA and p.Lys1406_Glu1407?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359435(;)
Alt rs80359435(;)
Reference rs80359435(AAAG;AAAG)
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.32912710_32912713delAGAA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044372.2, RCV000113285.1,