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rs80359410

From SNPedia

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


Make rs80359410(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32338215
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359410
ebirs80359410
HLIrs80359410
Exacrs80359410
Varsomers80359410
Maprs80359410
PheGenIrs80359410
hapmaprs80359410
1000 genomesrs80359410
hgdprs80359410
ensemblrs80359410
gopubmedrs80359410
geneviewrs80359410
scholarrs80359410
googlers80359410
pharmgkbrs80359410
gwascentralrs80359410
openSNPrs80359410
23andMers80359410
23andMe allrs80359410
SNP Nexus

SNPshotrs80359410
SNPdbers80359410
MSV3drs80359410
GWAS Ctlgrs80359410
Max Magnitude6
rs80359410, also known as 4088del4, c.3860_3863delATAA and p.Asn1287_Asn1288?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359410(;)
Alt rs80359410(;)
Reference rs80359410(AAAT;AAAT)
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.32912352_32912355delATAA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044287.2, RCV000113230.1,