• 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
NDUFS6 (HGNC:7713) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
NADH:ubiquinone oxidoreductase subunit S6
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
CI-13kA
%HI
81.82(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.1(Read more about gnomAD pLI score)
LOEUF
1.3(Read more about gnomAD LOEUF score)
Cytoband
5p15.33
Genomic Coordinates
GRCh37/hg19: chr5:1801521-1816162 NCBI Ensembl UCSC
GRCh38/hg38: chr5:1801407-1816048 NCBI Ensembl UCSC
MANE Select Transcript
NM_004553.6 ENST00000274137.10 (Read more about MANE Select)
Function
Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. {ECO:0000269|PubMed:27626371}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-22249
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • mitochondrial complex I deficiency, nuclear type 1 Monarch

Triplosensitivity (TS) Score Details

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

Genomic View

Select assembly: (NC_000005.9) (NC_000005.10)