• 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
FAH (HGNC:3579) HGNC Entrez Ensembl OMIM UCSC GeneReviews LOVD LSDB ClinVar
HGNC Name
fumarylacetoacetate hydrolase
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
No aliases found
%HI
64.92(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.41(Read more about gnomAD LOEUF score)
Cytoband
15q25.1
Genomic Coordinates
GRCh37/hg19: chr15:80445131-80479291 NCBI Ensembl UCSC
GRCh38/hg38: chr15:80152789-80186949 NCBI Ensembl UCSC
MANE Select Transcript
NM_000137.4 ENST00000561421.6 (Read more about MANE Select)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-16372
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
09/02/2020

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
HI Evidence Comments:
Homozygous and compound heterozygous variants cause Hereditary Tyrosinemia Type 1

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
no evidence for triplosensitivity

Genomic View

Select assembly: (NC_000015.9) (NC_000015.10)