| Variant ID | 28745 |
|---|---|
| Entrez Gene ID | 10521 |
| Gene | DDX17 (GeneCards) |
| Location | hg19 22:38880759-38880759
hg38 22:38484754-38484754 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000022.10:g.38880759 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 | 51304566 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.3061 |
| CADD Raw score (version 1.3) | 0.396698 (Deleterious) |
| FATHMM raw prediction score | 0.41308 (Tolerated) |
| Deleterious probability by DeFine | 0.356 (Neutral) |
| Entrez Gene ID | 10521 (NCBI Gene) |
|---|---|
| Official Gene Symbol | DDX17 (GeneCards) |
| Number of variants in DDX17 in this database | 2 (view all the variants) |
| Full name | DEAD-box helicase 17 |
| Band | 22q13.1 |
| Other IDs | Vega: OTTHUMG00000151136 OMIM: 608469 HGNC: HGNC:2740 Ensembl: ENSG00000100201 |
| Other names | P72, RH70 |
| Summary | DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and splicesosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an ATPase activated by a variety of RNA species, but not by dsDNA. This protein, and that encoded by DDX5 gene, are more closely related to each other than to any other member of the DEAD box family. This gene can encode multiple isoforms due to both alternative splicing and the use of alternative translation initiation codons, including a non-AUG (CUG) start codon. [provided by RefSeq, Apr 2011] |
| Individual ID | 29217587.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |