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rs273900728

From SNPedia

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


Make rs273900728(-;-)
ReferenceGRCh38 38.1/142
Chromosome17
Position43082547
GeneBRCA1
is asnp
is mentioned by
dbSNPrs273900728
ebirs273900728
HLIrs273900728
Exacrs273900728
Varsomers273900728
Maprs273900728
PheGenIrs273900728
hapmaprs273900728
1000 genomesrs273900728
hgdprs273900728
ensemblrs273900728
gopubmedrs273900728
geneviewrs273900728
scholarrs273900728
googlers273900728
pharmgkbrs273900728
gwascentralrs273900728
openSNPrs273900728
23andMers273900728
23andMe allrs273900728
SNP Nexus

SNPshotrs273900728
SNPdbers273900728
MSV3drs273900728
GWAS Ctlgrs273900728
Max Magnitude6
rs273900728, also known as 4333delT, c.4214_4214delT and p.Ile1405Lysfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs273900728(;)
Alt rs273900728(;)
Reference rs273900728(T;T)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41234564delA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000112298.1,