| Variant ID | 13569 |
|---|---|
| Entrez Gene ID | 2731 |
| Gene | GLDC (GeneCards) |
| Location | hg19 9:6624569-6624569
hg38 9:6624569-6624569 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000009.11:g.6624569 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 | 141213431 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1803 |
| CADD Raw score (version 1.3) | -0.070603 (Deleterious) |
| FATHMM raw prediction score | 0.09528 (Tolerated) |
| Deleterious probability by DeFine | 0.255 (Neutral) |
| Entrez Gene ID | 2731 (NCBI Gene) |
|---|---|
| Official Gene Symbol | GLDC (GeneCards) |
| Number of variants in GLDC in this database | 3 (view all the variants) |
| Full name | glycine decarboxylase |
| Band | 9p24.1 |
| Other IDs | Vega: OTTHUMG00000019524 OMIM: 238300 HGNC: HGNC:4313 Ensembl: ENSG00000178445 |
| Other names | GCE, GCSP, HYGN1 |
| Summary | Degradation of glycine is brought about by the glycine cleavage system, which is composed of four mitochondrial protein components: P protein (a pyridoxal phosphate-dependent glycine decarboxylase), H protein (a lipoic acid-containing protein), T protein (a tetrahydrofolate-requiring enzyme), and L protein (a lipoamide dehydrogenase). The protein encoded by this gene is the P protein, which binds to glycine and enables the methylamine group from glycine to be transferred to the T protein. Defects in this gene are a cause of nonketotic hyperglycinemia (NKH).[provided by RefSeq, Jan 2010] |
| Individual ID | 29217584.15 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| 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; |