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rs80359583

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 rs80359583(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340756
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359583
ebirs80359583
HLIrs80359583
Exacrs80359583
Varsomers80359583
Maprs80359583
PheGenIrs80359583
hapmaprs80359583
1000 genomesrs80359583
hgdprs80359583
ensemblrs80359583
gopubmedrs80359583
geneviewrs80359583
scholarrs80359583
googlers80359583
pharmgkbrs80359583
gwascentralrs80359583
openSNPrs80359583
23andMers80359583
23andMe allrs80359583
SNP Nexus

SNPshotrs80359583
SNPdbers80359583
MSV3drs80359583
GWAS Ctlgrs80359583
Max Magnitude6
rs80359583, also known as 6629del4, c.6401_6404delATAA and p.Asn2134_Asn2135?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359583(;)
Alt rs80359583(;)
Reference rs80359583(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.32914893_32914896delATAA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044932.2, RCV000113582.1,