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rs80359495

From SNPedia

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


Make rs80359495(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32339572
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359495
ebirs80359495
HLIrs80359495
Exacrs80359495
Varsomers80359495
Maprs80359495
PheGenIrs80359495
hapmaprs80359495
1000 genomesrs80359495
hgdprs80359495
ensemblrs80359495
gopubmedrs80359495
geneviewrs80359495
scholarrs80359495
googlers80359495
pharmgkbrs80359495
gwascentralrs80359495
openSNPrs80359495
23andMers80359495
23andMe allrs80359495
SNP Nexus

SNPshotrs80359495
SNPdbers80359495
MSV3drs80359495
GWAS Ctlgrs80359495
Max Magnitude6
rs80359495, also known as 5445del5, c.5217_5221delTTTAA and p.Tyr1739_Ser1741?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359495(;)
Alt rs80359495(;)
Reference rs80359495(ATTTA;ATTTA)
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.32913709_32913713delTTTAA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044612.2, RCV000113401.1,