| Variant ID | 29274 |
|---|---|
| Entrez Gene ID | 2549 |
| Gene | GAB1 (GeneCards) |
| Location | hg19 4:144258315-144258315
hg38 4:143337162-143337162 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000004.11:g.144258315 C>G (Genome Assembly: GRCh37) |
| Exon or Intron | UTR5 |
|---|---|
| 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 | 191154276 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.1014 |
| CADD Raw score (version 1.3) | 1.765914 (Deleterious) |
| FATHMM raw prediction score | 0.24809 (Tolerated) |
| Deleterious probability by DeFine | 0.556 (Deleterious) |
| Entrez Gene ID | 2549 (NCBI Gene) |
|---|---|
| Official Gene Symbol | GAB1 (GeneCards) |
| Number of variants in GAB1 in this database | 1 (view all the variants) |
| Full name | GRB2 associated binding protein 1 |
| Band | 4q31.21 |
| Other IDs | Vega: OTTHUMG00000161432 OMIM: 604439 HGNC: HGNC:4066 Ensembl: ENSG00000109458 |
| Other names | DFNB26 |
| Summary | The protein encoded by this gene is a member of the IRS1-like multisubstrate docking protein family. It is an important mediator of branching tubulogenesis and plays a central role in cellular growth response, transformation and apoptosis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008] |
| Individual ID | 28503910.151 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28503910 |
| Whose mosaic mutation | Normal |
| Phenotype | 2 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28503910 |
|---|---|
| Title | Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations |
| Journal | Human Mutation |
| Publication date | 2017.05 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 215; |