Gene "MitochondrialtRNA"
Found 1 record
Gene information
Gene symbol:
MitochondrialtRNA
See related:
Ensembl: , Gene ID:
Additive variants :
Undetected
Genetic interaction partners
No data
Modifier statisitcs
Record:
1 
Disorder:
1 
Vriant:
1 
Reference:
1 
Effect type:
Penetrance(1)  
Modifier effect:
Altered incidence(1)  
Detail：
  • Variant 1:
    MitochondrialtRNA:c.15927G>A
    Gene:
    MitochondrialtRNA
    Genomic location:
    dbSNP ID:
    Target disease:
    Diabetes Mellitus(DOID_9351)
    Effect type:
    Penetrance 
    Modifier effect:
    Altered incidence 
    Evidence:
    Pedigree analysis 
    Effect:
    The G15927A mutation has a potential modifier role in increasing the penetrance and expressivity of the deafness-associated 12S rRNA A1555G mutation in those Chinese pedigrees
    Reference:
    PMID18820594
    Title:
    Mitochondrial tRNAThr G15927A mutation may modulate the phenotypic manifestation of ototoxic 12S rRNA A1555G mutation in four Chinese families.
    Species studied:
    Human
    Abstract:
    To investigate the role of mitochondrial modifiers in the development of deafness associated with 12S rRNA A1555G mutation.