| Variant ID | 27453 |
|---|---|
| Entrez Gene ID | 57522 |
| Gene | SRGAP1 (GeneCards) |
| Location | hg19 12:64324087-64324087
hg38 12:63930307-63930307 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000012.11:g.64324087 A>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 | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.4341 |
| CADD Raw score (version 1.3) | -0.354178 (Deleterious) |
| FATHMM raw prediction score | 0.11739 (Tolerated) |
| Deleterious probability by DeFine | 0.2411 (Neutral) |
| Entrez Gene ID | 57522 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SRGAP1 (GeneCards) |
| Number of variants in SRGAP1 in this database | 3 (view all the variants) |
| Full name | SLIT-ROBO Rho GTPase activating protein 1 |
| Band | 12q14.2 |
| Other IDs | Vega: OTTHUMG00000168750 OMIM: 606523 HGNC: HGNC:17382 Ensembl: ENSG00000196935 |
| Other names | NMTC2, ARHGAP13 |
| Summary | The protein encoded by this gene is a GTPase activator, working with the GTPase CDC42 to negatively regulate neuronal migration. The encoded protein interacts with the transmembrane receptor ROBO1 to inactivate CDC42. [provided by RefSeq, Sep 2016] |
| Individual ID | 29217587.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |