Variant "KRT17:c.177C-A(p.S59R)"
Search result: 1 record
Variant information
Gene:
KRT17 
Variant:
KRT17:c.177C-A(p.S59R) 
dbSNP ID:
no data 
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Risk factor(1)  
Detail：
  • 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