| Variant ID | 29454 |
|---|---|
| Entrez Gene ID | 8632 |
| Gene | DNAH17 (GeneCards) |
| Location | hg19 17:76475120-76475120
hg38 17:78479038-78479038 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000017.10:g.76475120 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 | 81195210 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.2495 |
| CADD Raw score (version 1.3) | 4.140885 (Deleterious) |
| FATHMM raw prediction score | 0.99498 (Tolerated) |
| MutationTaster score | 0.993 (Deleterious) |
| MutatioinAssessor score | 3.535 (Deleterious) |
| MetaSVM score | -0.262 (Tolerated) |
| MetaLR score | 0.303 (Tolerated) |
| MCAP score | 0.282 (Deleterious) |
| FitCons score | 0.503 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 3.84 |
| PhyloP score based on multiple alignment of 100 vertebrates | 9.728 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 13.019 |
| Deleterious probability by iFish2 | 0.0434 (Neutral) |
| Deleterious probability by DeFine | 0.9503 (Deleterious) |
| Entrez Gene ID | 8632 (NCBI Gene) |
|---|---|
| Official Gene Symbol | DNAH17 (GeneCards) |
| Number of variants in DNAH17 in this database | 4 (view all the variants) |
| Full name | dynein axonemal heavy chain 17 |
| Band | 17q25.3 |
| Other IDs | Vega: OTTHUMG00000150216 OMIM: 610063 HGNC: HGNC:2946 Ensembl: ENSG00000187775 |
| Other names | DNEL2, DNAHL1 |
| Summary | Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. DNAH17 is a heavy chain associated with axonemal dynein (Milisav and Affara, 1998 [PubMed 9545504]).[supplied by OMIM, Mar 2008] |
| Individual ID | 28714951.130 (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; |