Variant ID | 8544 |
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Entrez Gene ID | 4724 |
Gene | NDUFS4 (GeneCards) |
Location | hg19 5:52897634-52897634
hg38 5:53601804-53601804 |
Disease | Asymptomatic |
Method | HiSeq X Ten |
Mutation(HGVS format) | NC_000005.9:g.52897634 C>T (Genome Assembly: GRCh37) |
Exon or Intron | NA |
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Position in protein | NA |
Amino acid changes in protein | NA > NA |
Position in cDNA | NA |
Changes in cDNA | NA > NA |
mRNA accession | NA |
mRNA length | NA |
Reference length | 180915260 |
MAF in gnomAD genome (version 2.0.1) | 0 |
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EIGEN score | -0.1096 |
CADD Raw score (version 1.3) | 0.296432 (Deleterious) |
FATHMM raw prediction score | 0.03821 (Tolerated) |
Deleterious probability by DeFine | 0.1381 (Neutral) |
Entrez Gene ID | 4724 (NCBI Gene) |
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Official Gene Symbol | NDUFS4 (GeneCards) |
Number of variants in NDUFS4 in this database | 5 (view all the variants) |
Full name | NADH:ubiquinone oxidoreductase subunit S4 |
Band | 5q11.2 |
Other IDs | Vega: OTTHUMG00000096987 OMIM: 602694 HGNC: HGNC:7711 Ensembl: ENSG00000164258 |
Other names | AQDQ, CI-18, CI-AQDQ, CI-18kDa |
Summary | This gene encodes an nuclear-encoded accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (complex I, or NADH:ubiquinone oxidoreductase). Complex I removes electrons from NADH and passes them to the electron acceptor ubiquinone. Mutations in this gene can cause mitochondrial complex I deficiencies such as Leigh syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015] |
Individual ID | 29217584.15 (view all the variants in this individual) |
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Pubmed ID | 29217584 |
Whose mosaic mutation | Normal |
Phenotype | 1 |
Disease | Asymptomatic |
OMIM ID |
Pubmed ID | 29217584 |
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Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
Journal | Science |
Publication date | 2018.02 |
Disease | Cockayne syndrome Xeroderma Pigmentosum |
Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |