ETFDH |
- 30
Haplo
Score - -5
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- ETFDH (HGNC:3483) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- electron transfer flavoprotein dehydrogenase
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- ETFQO
- %HI
- 46.5(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 1.13(Read more about gnomAD LOEUF score)
- Cytoband
- 4q32.1
- Genomic Coordinates
-
GRCh37/hg19: chr4:159593448-159630775 NCBI Ensembl UCSC GRCh38/hg38: chr4:158672296-158709623 NCBI Ensembl UCSC - MANE Select Transcript
- NM_004453.4 ENST00000511912.6 (Read more about MANE Select)
- Function
- Accepts electrons from ETF and reduces ubiquinone. {ECO:0000269|PubMed:12049629}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-15101
ClinGen Curation ID:
CCID:007090
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:
- multiple acyl-CoA dehydrogenase deficiency Monarch
Triplosensitivity (TS) Score Details
TS Evidence Strength:
Not Yet Evaluated (Disclaimer)
Genomic View
Select assembly:
(NC_000004.11)
(NC_000004.12)