| Variant ID | 8615 |
|---|---|
| Entrez Gene ID | 4724 |
| Gene | NDUFS4 (GeneCards) |
| Location | hg19 5:53068768-53068768
hg38 5:53772938-53772938 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000005.9:g.53068768 A>G (Genome Assembly: GRCh37) |
| Exon or Intron | NA |
|---|---|
| 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 |
|---|---|
| EIGEN score | 0.1346 |
| CADD Raw score (version 1.3) | 1.774721 (Deleterious) |
| FATHMM raw prediction score | 0.66332 (Tolerated) |
| Deleterious probability by DeFine | 0.083 (Neutral) |
| Entrez Gene ID | 4724 (NCBI Gene) |
|---|---|
| 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 | 29217584.17 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| Pubmed ID | 29217584 |
|---|---|
| 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; |