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rs80359624

From SNPedia

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


Make rs80359624(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32341116
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359624
ebirs80359624
HLIrs80359624
Exacrs80359624
Varsomers80359624
Maprs80359624
PheGenIrs80359624
hapmaprs80359624
1000 genomesrs80359624
hgdprs80359624
ensemblrs80359624
gopubmedrs80359624
geneviewrs80359624
scholarrs80359624
googlers80359624
pharmgkbrs80359624
gwascentralrs80359624
openSNPrs80359624
23andMers80359624
23andMe allrs80359624
SNP Nexus

SNPshotrs80359624
SNPdbers80359624
MSV3drs80359624
GWAS Ctlgrs80359624
Max Magnitude6
rs80359624, also known as 6989delTT, c.6761_6762delTT and p.Phe2254Tyrfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359624(;)
Alt rs80359624(;)
Reference rs80359624(TT;TT)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer not provided
Variation info
Gene BRCA2
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 not provided
Reversed 0
HGVS NC_000013.10:g.32915253_32915254delTT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000045042.3, RCV000113639.1, RCV000222656.1,