Gene "MYBPC3"
Found 1 record
Gene information
Gene symbol:
MYBPC3
See related:
Ensembl: ENSG00000134571, Gene ID: 4607
Additive variants :
Undetected
Genetic interaction partners
No data
Modifier statisitcs
Record:
1 
Disorder:
1 
Vriant:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Altered LV outflow tract pressure gradient(1)  
Detail：
  • Variant 1:
    MYBPC3:c.643C>T(p.Arg215Cys)
    Gene:
    MYBPC3
    Genomic location:
    chr11:47371336
    dbSNP ID:
    rs397516063
    Target disease:
    Hypertrophic Cardiomyopathy(DOID_11984)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered LV outflow tract pressure gradient 
    Evidence:
    Pedigree analysis 
    Effect:
    MYBPC3-R215C may function as a genetic modifier
    Reference:
    PMID30600190
    Title:
    Novel phenotype-genotype correlations of hypertrophic cardiomyopathy caused by mutation in α-actin and myosin-binding protein genes in three unrelated Chinese families.
    Species studied:
    Human
    Abstract:
    The correlations between genotype and phenotype in hypertrophic cardiomyopathy (HCM) have not been established. Mutation of α-actin gene (ACTC1) is a rare cause of HCM. This study aimed to explore novel genotype-phenotype correlations in HCM patients with the variants in ACTC1 and myosin-binding protein (MYBPC3) genes in three unrelated Chinese families.