GPD1
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
GPD1 (HGNC:4455) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
glycerol-3-phosphate dehydrogenase 1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
No aliases found
%HI
31.74(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.01(Read more about gnomAD pLI score)
LOEUF
0.89(Read more about gnomAD LOEUF score)
Cytoband
12q13.12
Genomic Coordinates
GRCh37/hg19: chr12:50497791-50505096 NCBI Ensembl UCSC
GRCh38/hg38: chr12:50104008-50111313 NCBI Ensembl UCSC
MANE Select Transcript
NM_005276.4 ENST00000301149.8 (Read more about MANE Select)
Function
Has glycerol-3-phosphate dehydrogenase activity. {ECO:0000269|PubMed:7772607}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-2513
ClinGen Curation ID:
CCID:007239
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • transient infantile hypertriglyceridemia and hepatosteatosis Monarch

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000012.11) (NC_000012.12)