| Variant ID | 5052 |
|---|---|
| Entrez Gene ID | 1739 |
| Gene | DLG1 (GeneCards) |
| Location | hg19 3:196909841-196909841
hg38 3:197182970-197182970 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000003.11:g.196909841 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 | 198022430 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.2496 |
| CADD Raw score (version 1.3) | -0.202746 (Deleterious) |
| FATHMM raw prediction score | 0.14931 (Tolerated) |
| Deleterious probability by DeFine | 0.4556 (Neutral) |
| Entrez Gene ID | 1739 (NCBI Gene) |
|---|---|
| Official Gene Symbol | DLG1 (GeneCards) |
| Number of variants in DLG1 in this database | 5 (view all the variants) |
| Full name | discs large MAGUK scaffold protein 1 |
| Band | 3q29 |
| Other IDs | Vega: OTTHUMG00000047972 OMIM: 601014 HGNC: HGNC:2900 Ensembl: ENSG00000075711 |
| Other names | hdlg, DLGH1, SAP97, SAP-97, dJ1061C18.1.1 |
| Summary | This gene encodes a multi-domain scaffolding protein that is required for normal development. This protein may have a role in septate junction formation, signal transduction, cell proliferation, synaptogenesis and lymphocyte activation. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene, but the full-length nature of some of the variants is not known. [provided by RefSeq, Feb 2011] |
| Individual ID | 29217584.09 (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; |