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rs397508866

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AAAA;AAAA) 0 common in clinvar
(AAAA;GAAAG) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs397508866(GAAAG;GAAAG)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094141
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397508866
ebirs397508866
HLIrs397508866
Exacrs397508866
Varsomers397508866
Maprs397508866
PheGenIrs397508866
hapmaprs397508866
1000 genomesrs397508866
hgdprs397508866
ensemblrs397508866
gopubmedrs397508866
geneviewrs397508866
scholarrs397508866
googlers397508866
pharmgkbrs397508866
gwascentralrs397508866
openSNPrs397508866
23andMers397508866
23andMe allrs397508866
SNP Nexus

SNPshotrs397508866
SNPdbers397508866
MSV3drs397508866
GWAS Ctlgrs397508866
Max Magnitude6
rs397508866, also known as 1506A>GinsG, c.1387_1390delAAAAinsGAAAG and Lys463Glufs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs397508866(GAAAG;GAAAG)
Alt rs397508866(GAAAG;GAAAG)
Reference rs397508866(AAAA;AAAA)
Significance Untested
Disease Familial cancer of breast
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast
Reversed 1
HGVS NC_000017.10:g.41246158_41246161delTTTTinsCTTTC
CLNSRC
CLNACC RCV000047455.2,