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rs273897665

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;A) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs273897665(-;-)
Make rs273897665(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position43106478
GeneBRCA1
is asnp
is mentioned by
dbSNPrs273897665
ebirs273897665
HLIrs273897665
Exacrs273897665
Varsomers273897665
Maprs273897665
PheGenIrs273897665
hapmaprs273897665
1000 genomesrs273897665
hgdprs273897665
ensemblrs273897665
gopubmedrs273897665
geneviewrs273897665
scholarrs273897665
googlers273897665
pharmgkbrs273897665
gwascentralrs273897665
openSNPrs273897665
23andMers273897665
23andMe allrs273897665
SNP Nexus

SNPshotrs273897665
SNPdbers273897665
MSV3drs273897665
GWAS Ctlgrs273897665
Max Magnitude6
rs273897665, also known as 308insA, c.189_190insA and p.Leu63_Cys64?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs273897665(A;A)
Alt rs273897665(A;A)
Reference rs273897665(;)
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.41258496dupT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047629.2, RCV000111973.1,