| Variant ID | 29221 |
|---|---|
| Entrez Gene ID | 84932 |
| Gene | RAB2B (GeneCards) |
| Location | hg19 14:21943117-21943117
hg38 14:21474958-21474958 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000014.8:g.21943117 G>T (Genome Assembly: GRCh37) |
| Exon or Intron | Intron |
|---|---|
| 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 | 107349540 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.981 |
| CADD Raw score (version 1.3) | 2.334504 (Deleterious) |
| FATHMM raw prediction score | 0.95555 (Tolerated) |
| Deleterious probability by DeFine | 0.6997 (Deleterious) |
| Entrez Gene ID | 84932 (NCBI Gene) |
|---|---|
| Official Gene Symbol | RAB2B (GeneCards) |
| Number of variants in RAB2B in this database | 1 (view all the variants) |
| Full name | RAB2B, member RAS oncogene family |
| Band | 14q11.2 |
| Other IDs | Vega: OTTHUMG00000029693 OMIM: 607466 HGNC: HGNC:20246 Ensembl: ENSG00000129472 |
| Other names | None |
| Summary | Members of the Rab protein family are nontransforming monomeric GTP-binding proteins of the Ras superfamily that contain 4 highly conserved regions involved in GTP binding and hydrolysis. Rab proteins are prenylated, membrane-bound proteins involved in vesicular fusion and trafficking; see MIM 179508.[supplied by OMIM, Apr 2006] |
| Individual ID | 28503910.97 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28503910 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| 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; |