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rs80359627

From SNPedia

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


Make rs80359627(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32341188
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359627
ebirs80359627
HLIrs80359627
Exacrs80359627
Varsomers80359627
Maprs80359627
PheGenIrs80359627
hapmaprs80359627
1000 genomesrs80359627
hgdprs80359627
ensemblrs80359627
gopubmedrs80359627
geneviewrs80359627
scholarrs80359627
googlers80359627
pharmgkbrs80359627
gwascentralrs80359627
openSNPrs80359627
23andMers80359627
23andMe allrs80359627
SNP Nexus

SNPshotrs80359627
SNPdbers80359627
MSV3drs80359627
GWAS Ctlgrs80359627
Max Magnitude6
rs80359627, also known as 7061del5, c.6833_6837delTCTTA and p.Ile2278_Leu2279?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359627(;)
Alt rs80359627(;)
Reference rs80359627(CTTAT;CTTAT)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000013.10:g.32915325_32915329delTCTTA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000045068.2, RCV000113656.2, RCV000162934.1,