| Variant ID | 10138 |
|---|---|
| Entrez Gene ID | 1769 |
| Gene | DNAH8 (GeneCards) |
| Location | hg19 6:38933056-38933056
hg38 6:38965280-38965280 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000006.11:g.38933056 G>A (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 | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0712 |
| CADD Raw score (version 1.3) | 0.677287 (Deleterious) |
| FATHMM raw prediction score | 0.10063 (Tolerated) |
| Deleterious probability by DeFine | 0.2003 (Neutral) |
| Entrez Gene ID | 1769 (NCBI Gene) |
|---|---|
| Official Gene Symbol | DNAH8 (GeneCards) |
| Number of variants in DNAH8 in this database | 7 (view all the variants) |
| Full name | dynein axonemal heavy chain 8 |
| Band | 6p21.2 |
| Other IDs | Vega: OTTHUMG00000016253 OMIM: 603337 HGNC: HGNC:2952 Ensembl: ENSG00000124721 |
| Other names | hdhc9, ATPase |
| Summary | The protein encoded by this gene is a heavy chain of an axonemal dynein involved in sperm and respiratory cilia motility. Axonemal dyneins generate force through hydrolysis of ATP and binding to microtubules. [provided by RefSeq, Jan 2012] |
| Individual ID | 29217584.19 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| 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; |