FAH |
- 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:
- tyrosinemia type I Monarch
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)