| Variant ID | 28354 |
|---|---|
| Entrez Gene ID | 9229 |
| Gene | DLGAP1 (GeneCards) |
| Location | hg19 18:5068942-5068942
hg38 18:5068943-5068943 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000018.9:g.5068942 T>C (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 | 78077248 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.592 |
| CADD Raw score (version 1.3) | 1.725877 (Deleterious) |
| FATHMM raw prediction score | 0.61902 (Tolerated) |
| Deleterious probability by DeFine | 0.6001 (Deleterious) |
| Entrez Gene ID | 9229 (NCBI Gene) |
|---|---|
| Official Gene Symbol | DLGAP1 (GeneCards) |
| Number of variants in DLGAP1 in this database | 20 (view all the variants) |
| Full name | DLG associated protein 1 |
| Band | 18p11.31 |
| Other IDs | Vega: OTTHUMG00000131537 OMIM: 605445 HGNC: HGNC:2905 Ensembl: ENSG00000170579 |
| Other names | DAP1, GKAP, DAP-1, SAPAP1, DLGAP1A, DLGAP1B, DAP-1-BETA, DAP-1-ALPHA |
| Summary | None |
| Individual ID | 29217587.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |