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GABRD |
Gene Facts External Data Attribution
- HGNC Symbol
- GABRD (HGNC:4084) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- gamma-aminobutyric acid type A receptor subunit delta
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- GABAARdelta
- %HI
- 59.29(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.79(Read more about gnomAD LOEUF score)
- Cytoband
- 1p36.33
- Genomic Coordinates
-
GRCh37/hg19: chr1:1950784-1962197 NCBI Ensembl UCSC GRCh38/hg38: chr1:2019345-2030758 NCBI Ensembl UCSC - MANE Select Transcript
- NM_000815.5 ENST00000378585.7 (Read more about MANE Select)
- Function
- GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-21015
Curation Status:
Under Primary Review
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Under Primary Review
Triplosensitivity:
Under Primary Review
Last Evaluated:
Under Primary Review
Haploinsufficiency (HI) Score Details
Review not yet complete.
Triplosensitivity (TS) Score Details
Review not yet complete.
Genomic View
Select assembly:
(NC_000001.10)
(NC_000001.11)
