Variant "MYBPC3:c.643C>T(p.Arg215Cys)"
Search result: 1 record
Variant information
Gene:
MYBPC3 
Variant:
MYBPC3:c.643C>T(p.Arg215Cys) 
Genomic location:
chr11:47371336(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_000256.3:c.643C>T(p.Arg215Cys)
dbSNP ID:
rs397516063  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Altered LV outflow tract pressure gradient(1)  
Detail：
  • 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.