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rs397508990

From SNPedia

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


Make rs397508990(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092873
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397508990
dbSNP (old)rs397508990
ClinGenrs397508990
ebirs397508990
HLIrs397508990
Exacrs397508990
Gnomadrs397508990
Varsomers397508990
Maprs397508990
PheGenIrs397508990
Biobankrs397508990
1000 genomesrs397508990
hgdprs397508990
ensemblrs397508990
gopubmedrs397508990
geneviewrs397508990
scholarrs397508990
googlers397508990
pharmgkbrs397508990
gwascentralrs397508990
openSNPrs397508990
23andMers397508990
23andMe allrs397508990
SNP Nexus

SNPshotrs397508990
SNPdbers397508990
MSV3drs397508990
GWAS Ctlgrs397508990
Max Magnitude6

BRCA1, c.2657_2658delCT (p.Ser886Cysfs)

ClinVar
Risk rs397508990(-;-)
Alt rs397508990(-;-)
Reference Rs397508990(CT;CT)
Significance Pathogenic
Disease Familial cancer of breast Hereditary cancer-predisposing syndrome Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41244890_41244891delAG
CLNSRC ClinVar
CLNACC RCV000047911.2, RCV000164737.1, RCV000225686.2,