| Variant ID | 18585 |
|---|---|
| Entrez Gene ID | 2643 |
| Gene | GCH1 (GeneCards) |
| Location | hg19 14:55335345-55335345
hg38 14:54868627-54868627 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000014.8:g.55335345 A>T (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 | 107349540 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3917 |
| CADD Raw score (version 1.3) | -0.338163 (Deleterious) |
| FATHMM raw prediction score | 0.06722 (Tolerated) |
| Deleterious probability by DeFine | 0.1314 (Neutral) |
| Entrez Gene ID | 2643 (NCBI Gene) |
|---|---|
| Official Gene Symbol | GCH1 (GeneCards) |
| Number of variants in GCH1 in this database | 2 (view all the variants) |
| Full name | GTP cyclohydrolase 1 |
| Band | 14q22.2 |
| Other IDs | Vega: OTTHUMG00000029754 OMIM: 600225 HGNC: HGNC:4193 Ensembl: ENSG00000131979 |
| Other names | GCH, DYT5, DYT14, DYT5a, GTPCH1, HPABH4B, GTP-CH-1 |
| Summary | This gene encodes a member of the GTP cyclohydrolase family. The encoded protein is the first and rate-limiting enzyme in tetrahydrobiopterin (BH4) biosynthesis, catalyzing the conversion of GTP into 7,8-dihydroneopterin triphosphate. BH4 is an essential cofactor required by aromatic amino acid hydroxylases as well as nitric oxide synthases. Mutations in this gene are associated with malignant hyperphenylalaninemia and dopa-responsive dystonia. Several alternatively spliced transcript variants encoding different isoforms have been described; however, not all variants give rise to a functional enzyme. [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; |