| Variant ID | 3808 |
|---|---|
| Entrez Gene ID | 56171 |
| Gene | DNAH7 (GeneCards) |
| Location | hg19 2:196992820-196992820
hg38 2:196128096-196128096 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000002.11:g.196992820 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 | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0.00006467 |
|---|---|
| EIGEN score | -0.0583 |
| CADD Raw score (version 1.3) | -0.350831 (Deleterious) |
| FATHMM raw prediction score | 0.20827 (Tolerated) |
| Deleterious probability by DeFine | 0.0817 (Neutral) |
| Entrez Gene ID | 56171 (NCBI Gene) |
|---|---|
| Official Gene Symbol | DNAH7 (GeneCards) |
| Number of variants in DNAH7 in this database | 5 (view all the variants) |
| Full name | dynein axonemal heavy chain 7 |
| Band | 2q32.3 |
| Other IDs | Vega: OTTHUMG00000154438 OMIM: 610061 HGNC: HGNC:18661 Ensembl: ENSG00000118997 |
| Other names | None |
| Summary | DNAH7 is a component of the inner dynein arm of ciliary axonemes (Zhang et al., 2002 [PubMed 11877439]).[supplied by OMIM, Mar 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; |