Variant "tRNAMet:c.A4435G"
Search result: 1 record
Variant information
Gene:
tRNAMet 
Variant:
tRNAMet:c.A4435G 
dbSNP ID:
no data 
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Penetrance(1)  
Modifier effect:
Altered incidence(1)  
Detail：
  • Target disease:
    Leber Hereditary Optic Neuropathy (DOID_705)
    Effect type:
    Penetrance 
    Modifier effect:
    Altered incidence 
    Evidence:
    Pedigree analysis 
    Effect:
    The novel tRNAMet A4435G mutation has a potential modifier role in increasing the penetrance and expressivity of the primary LHON-associated G11778A mutation in this Chinese family.
    Reference:
    PMID16431939
    Title:
    The novel A4435G mutation in the mitochondrial tRNAMet may modulate the phenotypic expression of the LHON-associated ND4 G11778A mutation.
    Species studied:
    Human
    Abstract:
    To investigating the role of mitochondrial haplotypes in the development of Leber's hereditary optic neuropathy (LHON) associated with the ND4 G11778A mutation in Chinese families.