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rs397509339

From SNPedia

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


Make rs397509339(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094571
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397509339
ebirs397509339
HLIrs397509339
Exacrs397509339
Varsomers397509339
Maprs397509339
PheGenIrs397509339
hapmaprs397509339
1000 genomesrs397509339
hgdprs397509339
ensemblrs397509339
gopubmedrs397509339
geneviewrs397509339
scholarrs397509339
googlers397509339
pharmgkbrs397509339
gwascentralrs397509339
openSNPrs397509339
23andMers397509339
23andMe allrs397509339
SNP Nexus

SNPshotrs397509339
SNPdbers397509339
MSV3drs397509339
GWAS Ctlgrs397509339
Max Magnitude6
rs397509339, also known as 1078delGA, c.959_960delGA and p.Arg320MetfsX5, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs397509339(;)
Alt rs397509339(;)
Reference rs397509339(GA;GA)
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.41246588_41246589delTC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000049202.2, RCV000111518.1,