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rs273899705

From SNPedia

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


Make rs273899705(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092188
GeneBRCA1
is asnp
is mentioned by
dbSNPrs273899705
ebirs273899705
HLIrs273899705
Exacrs273899705
Varsomers273899705
Maprs273899705
PheGenIrs273899705
hapmaprs273899705
1000 genomesrs273899705
hgdprs273899705
ensemblrs273899705
gopubmedrs273899705
geneviewrs273899705
scholarrs273899705
googlers273899705
pharmgkbrs273899705
gwascentralrs273899705
openSNPrs273899705
23andMers273899705
23andMe allrs273899705
SNP Nexus

SNPshotrs273899705
SNPdbers273899705
MSV3drs273899705
GWAS Ctlgrs273899705
Max Magnitude6
rs273899705, also known as 3462delG, c.3343_3343delG and p.Glu1115Lysfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs273899705(;)
Alt rs273899705(;)
Reference rs273899705(G;G)
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.41244205delC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048157.2, RCV000112074.1,