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rs273900730

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;CTA) 6 BRCA1 variant considered pathogenic for breast cancer
(CTA;CTA) 0 common in clinvar
(CTA;TT) 6 BRCA1 variant considered pathogenic for breast cancer
(TT;CTA) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs273900730(TT;TT)
ReferenceGRCh38 38.1/141
Chromosome17
Position43076579
GeneBRCA1
is asnp
is mentioned by
dbSNPrs273900730
dbSNP (old)rs273900730
ClinGenrs273900730
ebirs273900730
HLIrs273900730
Exacrs273900730
Gnomadrs273900730
Varsomers273900730
Maprs273900730
PheGenIrs273900730
Biobankrs273900730
1000 genomesrs273900730
hgdprs273900730
ensemblrs273900730
gopubmedrs273900730
geneviewrs273900730
scholarrs273900730
googlers273900730
pharmgkbrs273900730
gwascentralrs273900730
openSNPrs273900730
23andMers273900730
23andMe allrs273900730
SNP Nexus

SNPshotrs273900730
SNPdbers273900730
MSV3drs273900730
GWAS Ctlgrs273900730
Max Magnitude6
rs273900730, also known as 4510delCTAinsTT, c.4391_4393delCTAinsTT and p.Pro1464_Ile1465LeuTerfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs273900730(TT;TT)
Alt rs273900730(TT;TT)
Reference Rs273900730(CTA;CTA)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast not provided
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast not provided
Reversed 1
HGVS NC_000017.10:g.41228596_41228598delTAGinsAA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000031169.9, RCV000048545.3, RCV000164829.1, RCV000239298.1, RCV000255855.1,