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rs80359607

From SNPedia

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


Make rs80359607(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340955
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359607
ebirs80359607
HLIrs80359607
Exacrs80359607
Varsomers80359607
Maprs80359607
PheGenIrs80359607
hapmaprs80359607
1000 genomesrs80359607
hgdprs80359607
ensemblrs80359607
gopubmedrs80359607
geneviewrs80359607
scholarrs80359607
googlers80359607
pharmgkbrs80359607
gwascentralrs80359607
openSNPrs80359607
23andMers80359607
23andMe allrs80359607
SNP Nexus

SNPshotrs80359607
SNPdbers80359607
MSV3drs80359607
GWAS Ctlgrs80359607
Max Magnitude6
rs80359607, also known as 6828delTT, c.6600_6601delTT and p.Phe2200_Ser2201PheTerfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359607(;)
Alt rs80359607(;)
Reference rs80359607(TT;TT)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA2
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000013.10:g.32915092_32915093delTT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044990.3, RCV000113611.1, RCV000162932.1,