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rs111729952

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;T) 6 Familial hypertrophic cardiomyopathy (possible)
(T;T) 0 common in clinvar
Make rs111729952(C;C)
Make rs111729952(C;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position47337796
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs111729952
dbSNP (old)rs111729952
ClinGenrs111729952
ebirs111729952
HLIrs111729952
Exacrs111729952
Gnomadrs111729952
Varsomers111729952
Maprs111729952
PheGenIrs111729952
Biobankrs111729952
1000 genomesrs111729952
hgdprs111729952
ensemblrs111729952
gopubmedrs111729952
geneviewrs111729952
scholarrs111729952
googlers111729952
pharmgkbrs111729952
gwascentralrs111729952
openSNPrs111729952
23andMers111729952
23andMe allrs111729952
SNPshotrs111729952
SNPdbers111729952
MSV3drs111729952
GWAS Ctlgrs111729952
Max Magnitude6

The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to [PMID 25611685OA-icon.png].

[PMID 27483260OA-icon.png] A Next-Generation Sequencing Approach to Identify Gene Mutations in Early- and Late-Onset Hypertrophic Cardiomyopathy Patients of an Italian Cohort.

[PMID 27600940OA-icon.png] Targeted next-generation sequencing helps to decipher the genetic and phenotypic heterogeneity of hypertrophic cardiomyopathy.

[PMID 25740977] A founder MYBPC3 mutation results in HCM with a high risk of sudden death after the fourth decade of life.

[PMID 24704860OA-icon.png] Abnormal cardiac formation in hypertrophic cardiomyopathy: fractal analysis of trabeculae and preclinical gene expression.

[PMID 21302287OA-icon.png] Unexpectedly low mutation rates in beta-myosin heavy chain and cardiac myosin binding protein genes in Italian patients with hypertrophic cardiomyopathy.

[PMID 15519027OA-icon.png]Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy.


ClinVar
Risk rs111729952(C;C) rs111729952(G;G)
Alt rs111729952(C;C) rs111729952(G;G)
Reference Rs111729952(T;T)
Significance Other
Disease not provided Primary familial hypertrophic cardiomyopathy Cardiovascular phenotype Hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN not provided Primary familial hypertrophic cardiomyopathy Cardiovascular phenotype Hypertrophic cardiomyopathy
Reversed 0
HGVS NC_000011.9:g.47359347T>C
CLNSRC ClinVar
CLNACC RCV000158149.3, RCV000211804.2, RCV000242393.1, RCV000469704.1,