• 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
FGF3 (HGNC:3681) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
fibroblast growth factor 3
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
INT2
Alias symbols
HBGF-3
%HI
57.44(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.78(Read more about gnomAD LOEUF score)
Cytoband
11q13.3
Genomic Coordinates
GRCh37/hg19: chr11:69624736-69634184 NCBI Ensembl UCSC
GRCh38/hg38: chr11:69809968-69819416 NCBI Ensembl UCSC
MANE Select Transcript
NM_005247.4 ENST00000334134.4 (Read more about MANE Select)
Function
Plays an important role in the regulation of embryonic development, cell proliferation, and cell differentiation. Required for normal ear development. {ECO:0000269|PubMed:8663044}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-32573
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
Not Yet Evaluated
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • deafness with labyrinthine aplasia, microtia, and microdontia Monarch

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000011.9) (NC_000011.10)