| Variant ID | 16691 |
|---|---|
| Entrez Gene ID | 57522 |
| Gene | SRGAP1 (GeneCards) |
| Location | hg19 12:64416511-64416511
hg38 12:64022731-64022731 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000012.11:g.64416511 C>T (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 | -0.5261 |
| CADD Raw score (version 1.3) | -0.462365 (Deleterious) |
| FATHMM raw prediction score | 0.0801 (Tolerated) |
| Deleterious probability by DeFine | 0.3407 (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 | 29217584.13 (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; |