IDUA |
- 30
Haplo
Score - -5
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- IDUA (HGNC:5391) HGNC Entrez Ensembl OMIM UCSC GeneReviews LOVD LSDB ClinVar
- HGNC Name
- alpha-L-iduronidase
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- MPS1, MPSI
- %HI
- 69.73(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 1.35(Read more about gnomAD LOEUF score)
- Cytoband
- 4p16.3
- Genomic Coordinates
-
GRCh37/hg19: chr4:980785-998352 NCBI Ensembl UCSC GRCh38/hg38: chr4:986997-1008351 NCBI Ensembl UCSC - MANE Select Transcript
- NM_000203.5 ENST00000514224.2 (Read more about MANE Select)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-13565
ClinGen Curation ID:
CCID:007311
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:
- mucopolysaccharidosis type 1 Monarch
Triplosensitivity (TS) Score Details
TS Evidence Strength:
Not Yet Evaluated (Disclaimer)
Genomic View
Select assembly:
(NC_000004.11)
(NC_000004.12)