| Variant ID | 29265 |
|---|---|
| Entrez Gene ID | 100996295 |
| Gene | DNAH17-AS1 (GeneCards) |
| Location | hg19 17:76498818-76498818
hg38 17:78502736-78502736 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000017.10:g.76498818 G>A (Genome Assembly: GRCh37) |
| Exon or Intron | Exon |
|---|---|
| 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 | 81195210 |
| MAF in gnomAD genome (version 2.0.1) | 0.0000323 |
|---|---|
| EIGEN score | -0.305 |
| CADD Raw score (version 1.3) | 0.119185 (Deleterious) |
| FATHMM raw prediction score | 0.12973 (Tolerated) |
| Deleterious probability by DeFine | 0.5618 (Deleterious) |
| Entrez Gene ID | 100996295 (NCBI Gene) |
|---|---|
| Official Gene Symbol | DNAH17-AS1 (GeneCards) |
| Number of variants in DNAH17-AS1 in this database | 1 (view all the variants) |
| Full name | DNAH17 antisense RNA 1 |
| Band | 17q25.3 |
| Other IDs | HGNC: HGNC:48594 |
| Other names | None |
| Summary | None |
| Individual ID | 28503910.142 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28503910 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28503910 |
|---|---|
| Title | Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations |
| Journal | Human Mutation |
| Publication date | 2017.05 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 215; |