Variant "FGF3:c.283C>T(p.Arg95Trp)"
Search results: 2 records
Variant information
Gene:
FGF3 
Variant:
FGF3:c.283C>T(p.Arg95Trp) 
Genomic location:
chr11:69631129(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_005247.2:c.283C>T(p.Arg95Trp)
dbSNP ID:
rs281860303  
GWAS trait:
no data 
Modifier statisitcs
Record:
2 
Disorder:
2 
Reference:
1 
Effect type:
Expressivity(2)  
Modifier effect:
Risk factor(2)  
Details：
  • 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.
  • 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.