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rs273900731

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CTATAAGCCAGAA;CTATAAGCCAGAA) 0 common in clinvar
(TT;CTATAAGCCAGAA) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs273900731(CTATAAGCCAGAA;TT)
Make rs273900731(TT;TT)
ReferenceGRCh38 38.1/141
Chromosome17
Position43076569
GeneBRCA1
is asnp
is mentioned by
dbSNPrs273900731
ebirs273900731
HLIrs273900731
Exacrs273900731
Varsomers273900731
Maprs273900731
PheGenIrs273900731
hapmaprs273900731
1000 genomesrs273900731
hgdprs273900731
ensemblrs273900731
gopubmedrs273900731
geneviewrs273900731
scholarrs273900731
googlers273900731
pharmgkbrs273900731
gwascentralrs273900731
openSNPrs273900731
23andMers273900731
23andMe allrs273900731
SNP Nexus

SNPshotrs273900731
SNPdbers273900731
MSV3drs273900731
GWAS Ctlgrs273900731
Max Magnitude6
rs273900731, also known as 4510del13insTT, c.4391_4403delinsTT and p.Pro1464_Asn1468?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs273900731(TT;TT)
Alt rs273900731(TT;TT)
Reference rs273900731(CTATAAGCCAGAA;CTATAAGCCAGAA)
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.41228586_41228598delTTCTGGCTTATAGinsAA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048546.2, RCV000112331.1,