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rs397508865

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;G) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs397508865(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094144
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397508865
dbSNP (classic)rs397508865
ClinGenrs397508865
ebirs397508865
HLIrs397508865
Exacrs397508865
Gnomadrs397508865
Varsomers397508865
LitVarrs397508865
Maprs397508865
PheGenIrs397508865
Biobankrs397508865
1000 genomesrs397508865
hgdprs397508865
ensemblrs397508865
geneviewrs397508865
scholarrs397508865
googlers397508865
pharmgkbrs397508865
gwascentralrs397508865
openSNPrs397508865
23andMers397508865
SNPshotrs397508865
SNPdbers397508865
MSV3drs397508865
GWAS Ctlgrs397508865
Max Magnitude6

BRCA1, c.1386dupG (p.Lys463Glufs)

ClinVar
Risk rs397508865(G;G)
Alt rs397508865(G;G)
Reference Rs397508865(-;-)
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.41246162dupC
CLNSRC ClinVar
CLNACC RCV000047454.2, RCV000211048.1,