Variant "ACTC1:c.76G>A(p.Asp26Asn)"
Search result: 1 record
Variant information
Gene:
ACTC1 
Variant:
ACTC1:c.76G>A(p.Asp26Asn) 
Genomic location:
chr15:35086934(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_005159.4:c.76G>A(p.Asp26Asn)
pseudogene NR_120329.1:n.300-15763C>T
dbSNP ID:
rs727504399  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Penetrance(1)  
Modifier effect:
Altered incidence(1)  
Detail：
  • Target disease:
    Hypertrophic Cardiomyopathy (DOID_11984)
    Effect type:
    Penetrance 
    Modifier effect:
    Altered incidence 
    Evidence:
    Pedigree analysis 
    Effect:
    p.(Asp26Asn) mutation of ACTC1 was associated with HCM phenotype, and the penetrance is extremely high (81.8%) in adults
    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.