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rs273902792

From SNPedia

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


Make rs273902792(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094683
GeneBRCA1
is asnp
is mentioned by
dbSNPrs273902792
ebirs273902792
HLIrs273902792
Exacrs273902792
Varsomers273902792
Maprs273902792
PheGenIrs273902792
hapmaprs273902792
1000 genomesrs273902792
hgdprs273902792
ensemblrs273902792
gopubmedrs273902792
geneviewrs273902792
scholarrs273902792
googlers273902792
pharmgkbrs273902792
gwascentralrs273902792
openSNPrs273902792
23andMers273902792
23andMe allrs273902792
SNP Nexus

SNPshotrs273902792
SNPdbers273902792
MSV3drs273902792
GWAS Ctlgrs273902792
Max Magnitude6
rs273902792, also known as L283X, c.848T>A and p.Leu283Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs273902792(A,G;A,G)
Alt rs273902792(A,G;A,G)
Reference rs273902792(T;T)
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.41246700A>C; NC_000017.10:g.41246700A>T
CLNSRC ClinVar
CLNACC RCV000049171.2, RCV000238812.1, RCV000049170.2, RCV000112802.1,