| Variant ID | 19995 |
|---|---|
| Entrez Gene ID | 1770 |
| Gene | DNAH9 (GeneCards) |
| Location | hg19 17:11570175-11570175
hg38 17:11666858-11666858 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000017.10:g.11570175 T>C (Genome Assembly: GRCh37) |
| 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 | -0.227 |
| CADD Raw score (version 1.3) | -0.093737 (Deleterious) |
| FATHMM raw prediction score | 0.05072 (Tolerated) |
| Deleterious probability by DeFine | 0.4819 (Neutral) |
| 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 | 29217584.12 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |