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rs80357782

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;C) 6 BRCA1 variant considered pathogenic for breast cancer
(C;C) 0 common in clinvar


Make rs80357782(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094008
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357782
ebirs80357782
HLIrs80357782
Exacrs80357782
Varsomers80357782
Maprs80357782
PheGenIrs80357782
hapmaprs80357782
1000 genomesrs80357782
hgdprs80357782
ensemblrs80357782
gopubmedrs80357782
geneviewrs80357782
scholarrs80357782
googlers80357782
pharmgkbrs80357782
gwascentralrs80357782
openSNPrs80357782
23andMers80357782
23andMe allrs80357782
SNP Nexus

SNPshotrs80357782
SNPdbers80357782
MSV3drs80357782
GWAS Ctlgrs80357782
Max Magnitude6
rs80357782, also known as 1642delC, c.1523_1523delC and p.Pro508Leufs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357782(;)
Alt rs80357782(;)
Reference rs80357782(C;C)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41246025delG
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047514.2, RCV000111642.1,