| Variant ID | 13888 |
|---|---|
| Entrez Gene ID | 22982 |
| Gene | DIP2C (GeneCards) |
| Location | hg19 10:363235-363235
hg38 10:317295-317295 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000010.10:g.363235 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 | 135534747 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1896 |
| CADD Raw score (version 1.3) | 0.401823 (Deleterious) |
| FATHMM raw prediction score | 0.09475 (Tolerated) |
| Deleterious probability by DeFine | 0.4256 (Neutral) |
| Entrez Gene ID | 22982 (NCBI Gene) |
|---|---|
| Official Gene Symbol | DIP2C (GeneCards) |
| Number of variants in DIP2C in this database | 6 (view all the variants) |
| Full name | disco interacting protein 2 homolog C |
| Band | 10p15.3 |
| Other IDs | Vega: OTTHUMG00000017532 OMIM: 611380 HGNC: HGNC:29150 Ensembl: ENSG00000151240 |
| Other names | KIAA0934 |
| Summary | This gene encodes a member of the disco-interacting protein homolog 2 family. The protein shares strong similarity with a Drosophila protein which interacts with the transcription factor disco and is expressed in the nervous system. [provided by RefSeq, Oct 2008] |
| 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; |