Gene "KRT17"
Found 1 record
Gene information
Gene symbol:
KRT17
See related:
Ensembl: ENSG00000128422, Gene ID: 3872
Additive variants :
Undetected
Genetic interaction partners
No data
Modifier statisitcs
Record:
1 
Disorder:
1 
Vriant:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Risk factor(1)  
Detail：
  • Variant 1:
    KRT17:c.177C-A(p.S59R)
    Gene:
    KRT17
    Genomic location:
    dbSNP ID:
    Target disease:
    Autosomal dominant keratitis-ichthyosis-deafness syndrome(DOID_0060871)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    Pedigree analysis 
    Effect:
    Based on these findings, it is conceivable that the p.Ser59Arg variant in K17 has a modifying effect on the pathogenic GJB2 mutation p.Asp50Asn and may contribute the proband’s phenotype.
    Reference:
    PMID21999526
    Title:
    Possible modifier effects of keratin 17 gene mutation on keratitis-ichthyosis-deafness syndrome.
    Species studied:
    Human
    Abstract:
    No data