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rs80357729

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;-) 0 Normal
(-;A) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357729(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091903
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357729
ebirs80357729
HLIrs80357729
Exacrs80357729
Varsomers80357729
Maprs80357729
PheGenIrs80357729
hapmaprs80357729
1000 genomesrs80357729
hgdprs80357729
ensemblrs80357729
gopubmedrs80357729
geneviewrs80357729
scholarrs80357729
googlers80357729
pharmgkbrs80357729
gwascentralrs80357729
openSNPrs80357729
23andMers80357729
23andMe allrs80357729
SNP Nexus

SNPshotrs80357729
SNPdbers80357729
MSV3drs80357729
GWAS Ctlgrs80357729
Max Magnitude6
rs80357729, also known as 3746insA, c.3627_3628insA and p.Leu1209_Glu1210?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357729(A;A)
Alt rs80357729(A;A)
Reference rs80357729(;)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.41243921dupT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000031115.6, RCV000048263.3, RCV000130022.2,