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rs397509050

From SNPedia

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


Make rs397509050(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092252
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397509050
ebirs397509050
HLIrs397509050
Exacrs397509050
Varsomers397509050
Maprs397509050
PheGenIrs397509050
hapmaprs397509050
1000 genomesrs397509050
hgdprs397509050
ensemblrs397509050
gopubmedrs397509050
geneviewrs397509050
scholarrs397509050
googlers397509050
pharmgkbrs397509050
gwascentralrs397509050
openSNPrs397509050
23andMers397509050
23andMe allrs397509050
SNP Nexus

SNPshotrs397509050
SNPdbers397509050
MSV3drs397509050
GWAS Ctlgrs397509050
Max Magnitude6
rs397509050, also known as 3398delC, c.3279_3280delC and Tyr1094Ilefs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs397509050(;)
Alt rs397509050(;)
Reference rs397509050(C;C)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.41244269delG
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048120.2, RCV000112043.1, RCV000165817.1,