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rs273899692

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AT;CT) 6 BRCA1 variant considered pathogenic for breast cancer
(CT;CT) 0 common in clinvar
Make rs273899692(CT;TA)
Make rs273899692(TA;TA)
ReferenceGRCh38 38.1/142
Chromosome17
Position43092535
GeneBRCA1
is asnp
is mentioned by
dbSNPrs273899692
ebirs273899692
HLIrs273899692
Exacrs273899692
Varsomers273899692
Maprs273899692
PheGenIrs273899692
hapmaprs273899692
1000 genomesrs273899692
hgdprs273899692
ensemblrs273899692
gopubmedrs273899692
geneviewrs273899692
scholarrs273899692
googlers273899692
pharmgkbrs273899692
gwascentralrs273899692
openSNPrs273899692
23andMers273899692
23andMe allrs273899692
SNP Nexus

SNPshotrs273899692
SNPdbers273899692
MSV3drs273899692
GWAS Ctlgrs273899692
Max Magnitude6
rs273899692, also known as L999X, c.2995_2996delCTinsTA and p.Leu999Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs273899692(TA;TA)
Alt rs273899692(TA;TA)
Reference rs273899692(CT;CT)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Familial cancer of breast Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.41244552_41244553delAGinsTA
CLNSRC ClinVar
CLNACC RCV000111976.1, RCV000159910.1, RCV000164626.1,