| Variant ID | 1255 |
|---|---|
| Entrez Gene ID | 196385 |
| Gene | DNAH10 (GeneCards) |
| Location | hg19 12:124303750-124303750
hg38 12:123819203-123819203 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 v2 |
| Mutation(HGVS format) | NC_000012.11:g.124303750 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 1200 |
| Amino acid changes in protein | R > H |
| Position in cDNA | 3599 |
| Changes in cDNA | G > A |
| mRNA accession | NM_207437.3 |
| mRNA length | 13716 |
| Reference length | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0709 |
| CADD Raw score (version 1.3) | 1.975135 (Deleterious) |
| FATHMM raw prediction score | 0.71698 (Tolerated) |
| SIFT score | 0.072 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 2.645 (Deleterious) |
| PROVEAN score | -1.77 (Tolerated) |
| MetaSVM score | -1.029 (Tolerated) |
| MetaLR score | 0.121 (Tolerated) |
| MCAP score | 0.015 (Tolerated) |
| FitCons score | 0.487 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 3.35 |
| PhyloP score based on multiple alignment of 100 vertebrates | 3.123 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.932 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 8.021 |
| Deleterious probability by iFish2 | 0.0825 (Neutral) |
| Deleterious probability by DeFine | 0.802 (Deleterious) |
| Entrez Gene ID | 196385 (NCBI Gene) |
|---|---|
| Official Gene Symbol | DNAH10 (GeneCards) |
| Number of variants in DNAH10 in this database | 3 (view all the variants) |
| Full name | dynein axonemal heavy chain 10 |
| Band | 12q24.31 |
| Other IDs | Vega: OTTHUMG00000154477 OMIM: 605884 HGNC: HGNC:2941 Ensembl: ENSG00000197653 |
| Other names | None |
| Summary | Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. The axonemal dyneins, found in cilia and flagella, are components of the outer and inner dynein arms attached to the peripheral microtubule doublets. DNAH10 is an inner arm dynein heavy chain (Maiti et al., 2000 [PubMed 11175280]).[supplied by OMIM, Mar 2008] |
| Individual ID | 28867142.23 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Male Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28867142 |
|---|---|
| Title | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
| Journal | American Journal of Human Genetics |
| Publication date | 2017.08 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 247; |