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rs80357912

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357912(-;-)
Make rs80357912(T;T)
ReferenceGRCh38 38.1/142
Chromosome17
Position43092914
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357912
ebirs80357912
HLIrs80357912
Exacrs80357912
Varsomers80357912
Maprs80357912
PheGenIrs80357912
hapmaprs80357912
1000 genomesrs80357912
hgdprs80357912
ensemblrs80357912
gopubmedrs80357912
geneviewrs80357912
scholarrs80357912
googlers80357912
pharmgkbrs80357912
gwascentralrs80357912
openSNPrs80357912
23andMers80357912
23andMe allrs80357912
SNP Nexus

SNPshotrs80357912
SNPdbers80357912
MSV3drs80357912
GWAS Ctlgrs80357912
Max Magnitude6
rs80357912, also known as 2735insT, c.2616_2617insT and p.Phe872_Ser873?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357912(T;T)
Alt rs80357912(T;T)
Reference rs80357912(;)
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.41244932dupA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047903.2, RCV000111905.1,