| Variant ID | 29367 |
|---|---|
| Entrez Gene ID | 1770 |
| Gene | DNAH9 (GeneCards) |
| Location | hg19 17:11806196-11806196
hg38 17:11902879-11902879 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000017.10:g.11806196 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 | 81195210 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2791 |
| CADD Raw score (version 1.3) | 3.177325 (Deleterious) |
| FATHMM raw prediction score | 0.31555 (Tolerated) |
| SIFT score | 0.027 (Deleterious) |
| LRT score | 0.001 (Tolerated) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 1.48 (Tolerated) |
| PROVEAN score | -2.78 (Deleterious) |
| MetaSVM score | -1.133 (Tolerated) |
| MetaLR score | 0.044 (Tolerated) |
| MCAP score | 0.007 (Tolerated) |
| FitCons score | 0.487 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 1.48 |
| PhyloP score based on multiple alignment of 100 vertebrates | 0.105 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.005 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 9.626 |
| Deleterious probability by iFish2 | 0.0434 (Neutral) |
| Deleterious probability by DeFine | 0.8464 (Deleterious) |
| Entrez Gene ID | 1770 (NCBI Gene) |
|---|---|
| Official Gene Symbol | DNAH9 (GeneCards) |
| Number of variants in DNAH9 in this database | 3 (view all the variants) |
| Full name | dynein axonemal heavy chain 9 |
| Band | 17p12 |
| Other IDs | Vega: OTTHUMG00000130383 OMIM: 603330 HGNC: HGNC:2953 Ensembl: ENSG00000007174 |
| Other names | DYH9, HL20, DNEL1, HL-20, Dnahc9, DNAH17L |
| Summary | This gene encodes the heavy chain subunit of axonemal dynein, a large multi-subunit molecular motor. Axonemal dynein attaches to microtubules and hydrolyzes ATP to mediate the movement of cilia and flagella. The gene expresses at least two transcript variants; additional variants have been described, but their full length nature has not been determined. [provided by RefSeq, Jul 2008] |
| Individual ID | 28714951.43 (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; |