| Variant ID | 19885 |
|---|---|
| Entrez Gene ID | 8632 |
| Gene | DNAH17 (GeneCards) |
| Location | hg19 17:76597774-76597774
hg38 17:78601692-78601692 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000017.10:g.76597774 C>T (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 | -0.0416 |
| CADD Raw score (version 1.3) | 0.132352 (Deleterious) |
| FATHMM raw prediction score | 0.18797 (Tolerated) |
| Deleterious probability by DeFine | 0.3074 (Neutral) |
| 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 | 29217584.08 (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; |