| Entrez Gene ID | 1767 |
|---|---|
| Official Gene Symbol | DNAH5 (GeneCards) |
| Full name | dynein axonemal heavy chain 5 |
| Location | 5p15.2 |
| Other ids | Vega : OTTHUMG00000090533 MIM : 603335 HGNC : HGNC:2950 Ensembl : ENSG00000039139 |
| Other names | HL1, PCD, CILD3, KTGNR, DNAHC5 |
| Summary | This gene encodes a dynein protein, which is part of a microtubule-associated motor protein complex consisting of heavy, light, and intermediate chains. This protein is an axonemal heavy chain dynein. It functions as a force-generating protein with ATPase activity, whereby the release of ADP is thought to produce the force-producing power stroke. Mutations in this gene cause primary ciliary dyskinesia type 3, as well as Kartagener syndrome, which are both diseases due to ciliary defects. [provided by RefSeq, Oct 2009] |
Found 10 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 7517 | 1767 | DNAH5 | 5 | 14060362 | 14060362 | Asymptomatic | HiSeq X Ten |
| 7528 | 1767 | DNAH5 | 5 | 13871371 | 13871371 | Asymptomatic | HiSeq X Ten |
| 7537 | 1767 | DNAH5 | 5 | 14119084 | 14119084 | Asymptomatic | HiSeq X Ten |
| 8209 | 1767 | DNAH5 | 5 | 14087471 | 14087471 | Asymptomatic | HiSeq X Ten |
| 8333 | 1767 | DNAH5 | 5 | 13967935 | 13967935 | Asymptomatic | HiSeq X Ten |
| 8460 | 1767 | DNAH5 | 5 | 13889244 | 13889244 | Asymptomatic | HiSeq X Ten |
| 8537 | 1767 | DNAH5 | 5 | 13721639 | 13721639 | Asymptomatic | HiSeq X Ten |
| 25778 | 1767 | DNAH5 | 5 | 13850638 | 13850638 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
| 25863 | 1767 | DNAH5 | 5 | 13850638 | 13850638 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
| 25894 | 1767 | DNAH5 | 5 | 13850638 | 13850638 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |