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rs80359479

From SNPedia

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


Make rs80359479(-;-)
ReferenceGRCh38 38.1/142
Chromosome13
Position32339423
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359479
ebirs80359479
HLIrs80359479
Exacrs80359479
Varsomers80359479
Maprs80359479
PheGenIrs80359479
hapmaprs80359479
1000 genomesrs80359479
hgdprs80359479
ensemblrs80359479
gopubmedrs80359479
geneviewrs80359479
scholarrs80359479
googlers80359479
pharmgkbrs80359479
gwascentralrs80359479
openSNPrs80359479
23andMers80359479
23andMe allrs80359479
SNP Nexus

SNPshotrs80359479
SNPdbers80359479
MSV3drs80359479
GWAS Ctlgrs80359479
Max Magnitude6
rs80359479, also known as 5296del4, c.5068_5071delAAAA and p.Lys1690_Lys1691?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359479(;)
Alt rs80359479(;)
Reference rs80359479(AAAA;AAAA)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32913560_32913563delAAAA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000113373.1,