GNS |
- 30
Haplo
Score - -5
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- GNS (HGNC:4422) HGNC Entrez Ensembl OMIM UCSC GeneReviews LOVD LSDB ClinVar
- HGNC Name
- glucosamine (N-acetyl)-6-sulfatase
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- No aliases found
- %HI
- 30.08(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.01(Read more about gnomAD pLI score)
- LOEUF
- 1.54(Read more about gnomAD LOEUF score)
- Cytoband
- 12q14.3
- Genomic Coordinates
-
GRCh37/hg19: chr12:65107229-65153186 NCBI Ensembl UCSC GRCh38/hg38: chr12:64713449-64759406 NCBI Ensembl UCSC - MANE Select Transcript
- NM_002076.4 ENST00000258145.8 (Read more about MANE Select)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-22957
ClinGen Curation ID:
CCID:007231
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 3D Monarch
Triplosensitivity (TS) Score Details
TS Evidence Strength:
Not Yet Evaluated (Disclaimer)
Genomic View
Select assembly:
(NC_000012.11)
(NC_000012.12)