| Variant ID | 22005 |
|---|---|
| Entrez Gene ID | 1821 |
| Gene | DRP2 (GeneCards) |
| Location | hg19 X:100510888-100510888
hg38 X:101255899-101255899 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000023.10:g.100510888 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 | 155270560 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| CADD Raw score (version 1.3) | -0.06234 (Deleterious) |
| FATHMM raw prediction score | 0.11384 (Tolerated) |
| Deleterious probability by DeFine | 0.7108 (Deleterious) |
| Entrez Gene ID | 1821 (NCBI Gene) |
|---|---|
| Official Gene Symbol | DRP2 (GeneCards) |
| Number of variants in DRP2 in this database | 1 (view all the variants) |
| Full name | dystrophin related protein 2 |
| Band | Xq22.1 |
| Other IDs | Vega: OTTHUMG00000022020 OMIM: 300052 HGNC: HGNC:3032 Ensembl: ENSG00000102385 |
| Other names | DRP-2 |
| Summary | Members of the dystrophin family of proteins perform a critical role in the maintenance of membrane-associated complexes at points of intercellular contact in vertebrate cells. The protein encoded by this gene is predicted to resemble certain short C-terminal isoforms of dystrophin and dystrophin-related protein 1 (DRP1 or utrophin). DRP2 is expressed principally in the brain and spinal cord. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010] |
| 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; |