Gene "FGF3"
Found 2 records
Gene information
Gene symbol:
FGF3
See related:
Ensembl: ENSG00000186895, Gene ID: 2248
Additive variants :
Undetected
Genetic interaction partners
No data
Modifier statisitcs
Record:
2 
Disorder:
2 
Vriant:
1 
Reference:
1 
Effect type:
Expressivity(2)  
Modifier effect:
Risk factor(2)  
Details：
  • Variant 1:
    FGF3:c.283C>T(p.Arg95Trp)
    Gene:
    FGF3
    Genomic location:
    chr11:69631129
    dbSNP ID:
    rs281860303
    Target disease:
    Deafness With Labyrinthine Aplasia, Microtia, And Microdontia(Orphanet_90024)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    Pedigree analysis 
    Effect:
    We noted a less prominent dental and external ear phenotype in association with the homozygous p.R95W
    Reference:
    PMID21306635
    Title:
    Variable expressivity of FGF3 mutations associated with deafness and LAMM syndrome.
    Species studied:
    Human
    Abstract:
    Recessive mutations of fibroblast growth factor 3 (FGF3) can cause LAMM syndrome (OMIM 610706), characterized by fully penetrant complete labyrinthine aplasia, microtia and microdontia.
  • Variant 2:
    FGF3:c.283C>T(p.Arg95Trp)
    Gene:
    FGF3
    Genomic location:
    chr11:69631129
    dbSNP ID:
    rs281860303
    Target disease:
    Diabetes Mellitus(DOID_9351)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    Pedigree analysis 
    Effect:
    We noted a less prominent dental and external ear phenotype in association with the homozygous p.R95W
    Reference:
    PMID21306635
    Title:
    Variable expressivity of FGF3 mutations associated with deafness and LAMM syndrome.
    Species studied:
    Human
    Abstract:
    Recessive mutations of fibroblast growth factor 3 (FGF3) can cause LAMM syndrome (OMIM 610706), characterized by fully penetrant complete labyrinthine aplasia, microtia and microdontia.