| Variant ID | 29268 |
|---|---|
| Entrez Gene ID | 23380 |
| Gene | SRGAP2 (GeneCards) |
| Location | hg19 1:206610355-206610355
hg38 1:206437005-206437005 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000001.10:g.206610355 G>A (Genome Assembly: GRCh37) |
| Exon or Intron | Exon |
|---|---|
| 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 | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.021 |
| CADD Raw score (version 1.3) | 0.854294 (Deleterious) |
| FATHMM raw prediction score | 0.97541 (Tolerated) |
| Deleterious probability by DeFine | 0.8101 (Deleterious) |
| Entrez Gene ID | 23380 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SRGAP2 (GeneCards) |
| Number of variants in SRGAP2 in this database | 1 (view all the variants) |
| Full name | SLIT-ROBO Rho GTPase activating protein 2 |
| Band | 1q32.1 |
| Other IDs | Vega: OTTHUMG00000184381 OMIM: 606524 HGNC: HGNC:19751 Ensembl: ENSG00000266028 |
| Other names | FNBP2, SRGAP3, SRGAP2A, ARHGAP34 |
| Summary | This locus encodes a member of the SLIT-ROBO Rho GTPase activating protein family. The encoded protein stimulates GTPase activity of Rac1, and plays a role in cortical neuron development. This locus has several paralogs on human chromosome 1 resulting from segmental duplication. While this locus itself is conserved among various species, the paralogs are found only in the genus Homo, and not in the genomes of non-human great apes. Alternatively spliced transcript variants have been described for this locus. [provided by RefSeq, Jul 2014] |
| Individual ID | 28503910.145 (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; |