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rs80359586

From SNPedia

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


Make rs80359586(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340762
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359586
ebirs80359586
HLIrs80359586
Exacrs80359586
Varsomers80359586
Maprs80359586
PheGenIrs80359586
hapmaprs80359586
1000 genomesrs80359586
hgdprs80359586
ensemblrs80359586
gopubmedrs80359586
geneviewrs80359586
scholarrs80359586
googlers80359586
pharmgkbrs80359586
gwascentralrs80359586
openSNPrs80359586
23andMers80359586
23andMe allrs80359586
SNP Nexus

SNPshotrs80359586
SNPdbers80359586
MSV3drs80359586
GWAS Ctlgrs80359586
Max Magnitude6
rs80359586, also known as 6635del5, c.6407_6411delTAAAT and p.Leu2136_Asn2137?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359586(;)
Alt rs80359586(;)
Reference rs80359586(TTAAA;TTAAA)
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.32914899_32914903delTAAAT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044936.2, RCV000113584.1,