| Variant ID | 7517 |
|---|---|
| Entrez Gene ID | 1767 |
| Gene | DNAH5 (GeneCards) |
| Location | hg19 5:14060362-14060362
hg38 5:14060253-14060253 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000005.9:g.14060362 A>G (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 | 180915260 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1361 |
| CADD Raw score (version 1.3) | 0.20799 (Deleterious) |
| FATHMM raw prediction score | 0.10274 (Tolerated) |
| Deleterious probability by DeFine | 0.2641 (Neutral) |
| Entrez Gene ID | 1767 (NCBI Gene) |
|---|---|
| Official Gene Symbol | DNAH5 (GeneCards) |
| Number of variants in DNAH5 in this database | 10 (view all the variants) |
| Full name | dynein axonemal heavy chain 5 |
| Band | 5p15.2 |
| Other IDs | Vega: OTTHUMG00000090533 OMIM: 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] |
| Individual ID | 29217584.03 (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; |