| Variant ID | 29399 |
|---|---|
| Entrez Gene ID | 55526 |
| Gene | DHTKD1 (GeneCards) |
| Location | hg19 10:12139947-12139947
hg38 10:12097948-12097948 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000010.10:g.12139947 G>T (Genome Assembly: hg19) |
| 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 | 135534747 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3412 |
| CADD Raw score (version 1.3) | -0.376235 (Deleterious) |
| FATHMM raw prediction score | 0.93116 (Tolerated) |
| Deleterious probability by DeFine | 0.8812 (Deleterious) |
| Entrez Gene ID | 55526 (NCBI Gene) |
|---|---|
| Official Gene Symbol | DHTKD1 (GeneCards) |
| Number of variants in DHTKD1 in this database | 1 (view all the variants) |
| Full name | dehydrogenase E1 and transketolase domain containing 1 |
| Band | 10p14 |
| Other IDs | Vega: OTTHUMG00000017677 OMIM: 614984 HGNC: HGNC:23537 Ensembl: ENSG00000181192 |
| Other names | CMT2Q, AMOXAD |
| Summary | This gene encodes a component of a mitochondrial 2-oxoglutarate-dehydrogenase-complex-like protein involved in the degradation pathways of several amino acids, including lysine. Mutations in this gene are associated with 2-aminoadipic 2-oxoadipic aciduria and Charcot-Marie-Tooth Disease Type 2Q. [provided by RefSeq, May 2013] |
| Individual ID | 28714951.75 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28714951 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28714951 |
|---|---|
| Title | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder |
| Journal | Nat Neurosci |
| Publication date | 2017.07 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 376; |