| Variant ID | 12669 |
|---|---|
| Entrez Gene ID | 9228 |
| Gene | DLGAP2 (GeneCards) |
| Location | hg19 8:1613104-1613104
hg38 8:1664938-1664938 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000008.10:g.1613104 G>A (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 | 146364022 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0008 |
| CADD Raw score (version 1.3) | 0.082381 (Deleterious) |
| FATHMM raw prediction score | 0.18009 (Tolerated) |
| Deleterious probability by DeFine | 0.2783 (Neutral) |
| Entrez Gene ID | 9228 (NCBI Gene) |
|---|---|
| Official Gene Symbol | DLGAP2 (GeneCards) |
| Number of variants in DLGAP2 in this database | 3 (view all the variants) |
| Full name | DLG associated protein 2 |
| Band | 8p23.3 |
| Other IDs | Vega: OTTHUMG00000163599 OMIM: 605438 HGNC: HGNC:2906 Ensembl: ENSG00000198010 |
| Other names | DAP2, SAPAP2, C8orf68, ERICH1-AS1 |
| Summary | The product of this gene is a membrane-associated protein that may play a role in synapse organization and signalling in neuronal cells. This gene is biallelically expressed in the brain, however, only the paternal allele is expressed in the testis (PMID:18055845). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jun 2014] |
| Individual ID | 29217584.19 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| 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; |