| Variant ID | 949 |
|---|---|
| Entrez Gene ID | 8632 |
| Gene | DNAH17 (GeneCards) |
| Location | hg19 17:76491112-76491112
hg38 17:78495030-78495030 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000017.10:g.76491112 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 1991 |
| Amino acid changes in protein | L > L |
| 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 | 0.9073 |
| CADD Raw score (version 1.3) | 0.955123 (Deleterious) |
| FATHMM raw prediction score | 0.91992 (Tolerated) |
| Deleterious probability by DeFine | 0.6163 (Deleterious) |
| 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 | 27788131.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 27788131 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| OMIM ID | 120353 |
| Pubmed ID | 27788131 |
|---|---|
| Title | The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts. |
| Journal | PLoS Genetics |
| Publication date | 2016.10 |
| Disease | Human Skin Fibroblasts |
| Population | Caucasian |
| Number of cases | Male cases: 2; |