| Variant ID | 29450 |
|---|---|
| Entrez Gene ID | 23784 |
| Gene | POTEH (GeneCards) |
| Location | hg19 22:16279213-16279213
hg38 22:15698750-15698750 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000022.10:g.16279213 G>A (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 | 51304566 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.9945 |
| CADD Raw score (version 1.3) | 0.678616 (Deleterious) |
| FATHMM raw prediction score | 0.0678 (Tolerated) |
| Deleterious probability by iFish2 | 0.0719 (Neutral) |
| Deleterious probability by DeFine | 0.1783 (Neutral) |
| Entrez Gene ID | 23784 (NCBI Gene) |
|---|---|
| Official Gene Symbol | POTEH (GeneCards) |
| Number of variants in POTEH in this database | 1 (view all the variants) |
| Full name | POTE ankyrin domain family member H |
| Band | 22q11.1 |
| Other IDs | Vega: OTTHUMG00000140314 OMIM: 608913 HGNC: HGNC:133 Ensembl: ENSG00000198062 |
| Other names | A26C3, ACTBL1, POTE22, CT104.7 |
| Summary | None |
| Individual ID | 28714951.126 (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; |