| Variant ID | 2621 |
|---|---|
| Entrez Gene ID | 1491 |
| Gene | CTH (GeneCards) |
| Location | hg19 1:71008705-71008705
hg38 1:70543022-70543022 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000001.10:g.71008705 G>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 | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.1647 |
| CADD Raw score (version 1.3) | 0.152285 (Deleterious) |
| FATHMM raw prediction score | 0.17935 (Tolerated) |
| Deleterious probability by DeFine | 0.3485 (Neutral) |
| Entrez Gene ID | 1491 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CTH (GeneCards) |
| Number of variants in CTH in this database | 4 (view all the variants) |
| Full name | cystathionine gamma-lyase |
| Band | 1p31.1 |
| Other IDs | Vega: OTTHUMG00000009352 OMIM: 607657 HGNC: HGNC:2501 Ensembl: ENSG00000116761 |
| Other names | None |
| Summary | This gene encodes a cytoplasmic enzyme in the trans-sulfuration pathway that converts cystathione derived from methionine into cysteine. Glutathione synthesis in the liver is dependent upon the availability of cysteine. Mutations in this gene cause cystathioninuria. Alternative splicing of this gene results in three transcript variants encoding different isoforms. [provided by RefSeq, Jun 2010] |
| 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; |