| Variant ID | 29675 |
|---|---|
| Entrez Gene ID | 57716 |
| Gene | PRX (GeneCards) |
| Location | hg19 19:40900677-40900677
hg38 19:40394770-40394770 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000019.9:g.40900677 C>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 | 59128983 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.745 |
| CADD Raw score (version 1.3) | 0.503493 (Deleterious) |
| FATHMM raw prediction score | 0.43176 (Tolerated) |
| Deleterious probability by DeFine | 0.8824 (Deleterious) |
| Entrez Gene ID | 57716 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PRX (GeneCards) |
| Number of variants in PRX in this database | 1 (view all the variants) |
| Full name | periaxin |
| Band | 19q13.2 |
| Other IDs | Vega: OTTHUMG00000182597 OMIM: 605725 HGNC: HGNC:13797 Ensembl: ENSG00000105227 |
| Other names | CMT4F |
| Summary | This gene encodes a protein involved in peripheral nerve myelin upkeep. The encoded protein contains 2 PDZ domains which were named after PSD95 (post synaptic density protein), DlgA (Drosophila disc large tumor suppressor), and ZO1 (a mammalian tight junction protein). Two alternatively spliced transcript variants have been described for this gene which encode different protein isoforms and which are targeted differently in the Schwann cell. Mutations in this gene cause Charcot-Marie-Tooth neuoropathy, type 4F and Dejerine-Sottas neuropathy. [provided by RefSeq, Jul 2008] |
| Individual ID | 28714951.351 (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; |