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rs80357869

From SNPedia

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


Make rs80357869(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43106473
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357869
ebirs80357869
HLIrs80357869
Exacrs80357869
Varsomers80357869
Maprs80357869
PheGenIrs80357869
hapmaprs80357869
1000 genomesrs80357869
hgdprs80357869
ensemblrs80357869
gopubmedrs80357869
geneviewrs80357869
scholarrs80357869
googlers80357869
pharmgkbrs80357869
gwascentralrs80357869
openSNPrs80357869
23andMers80357869
23andMe allrs80357869
SNP Nexus

SNPshotrs80357869
SNPdbers80357869
MSV3drs80357869
GWAS Ctlgrs80357869
Max Magnitude6
rs80357869, also known as 314delG, c.195_195delG and p.Lys65=fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357869(;)
Alt rs80357869(;)
Reference rs80357869(G;G)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer not specified
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 not specified
Reversed 1
HGVS NC_000017.10:g.41258490delC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047656.2, RCV000111986.1, RCV000238641.1,