| Variant ID | 16896 |
|---|---|
| Entrez Gene ID | 55500 |
| Gene | ETNK1 (GeneCards) |
| Location | hg19 12:23032874-23032874
hg38 12:22879940-22879940 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000012.11:g.23032874 T>A (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 | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.1391 |
| CADD Raw score (version 1.3) | 0.848602 (Deleterious) |
| FATHMM raw prediction score | 0.20653 (Tolerated) |
| Deleterious probability by DeFine | 0.3519 (Neutral) |
| Entrez Gene ID | 55500 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ETNK1 (GeneCards) |
| Number of variants in ETNK1 in this database | 7 (view all the variants) |
| Full name | ethanolamine kinase 1 |
| Band | 12p12.1 |
| Other IDs | Vega: OTTHUMG00000169008 OMIM: 609858 HGNC: HGNC:24649 Ensembl: ENSG00000139163 |
| Other names | EKI, EKI1, EKI1, Nbla10396 |
| Summary | This gene encodes an ethanolamine kinase, which functions in the first committed step of the phosphatidylethanolamine synthesis pathway. This cytosolic enzyme is specific for ethanolamine and exhibits negligible kinase activity on choline. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.16 (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; |