| Variant ID | 29524 |
|---|---|
| Entrez Gene ID | 4821 |
| Gene | NKX2-2 (GeneCards) |
| Location | hg19 20:21494134-21494134
hg38 20:21513496-21513496 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000020.10:g.21494134 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 | 63025520 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 2.1808 |
| CADD Raw score (version 1.3) | 0.91663 (Deleterious) |
| FATHMM raw prediction score | 0.90827 (Tolerated) |
| Deleterious probability by DeFine | 0.9692 (Deleterious) |
| Entrez Gene ID | 4821 (NCBI Gene) |
|---|---|
| Official Gene Symbol | NKX2-2 (GeneCards) |
| Number of variants in NKX2-2 in this database | 2 (view all the variants) |
| Full name | NK2 homeobox 2 |
| Band | 20p11.22 |
| Other IDs | Vega: OTTHUMG00000170524 OMIM: 604612 HGNC: HGNC:7835 Ensembl: ENSG00000125820 |
| Other names | NKX2B, NKX2.2 |
| Summary | The protein encoded by this gene contains a homeobox domain and may be involved in the morphogenesis of the central nervous system. This gene is found on chromosome 20 near NKX2-4, and these two genes appear to be duplicated on chromosome 14 in the form of TITF1 and NKX2-8. The encoded protein is likely to be a nuclear transcription factor. [provided by RefSeq, Jul 2008] |
| Individual ID | 28714951.200 (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; |