| Variant ID | 1537 |
|---|---|
| Entrez Gene ID | 6586 |
| Gene | SLIT3 (GeneCards) |
| Location | hg19 5:168678421-168678421
hg38 5:169251417-169251417 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 v2 |
| Mutation(HGVS format) | NC_000005.9:g.168678421_168678421 del (Genome Assembly: hg19) |
| 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 | NM_003062.3 |
| mRNA length | 9727 |
| Reference length | 180915260 |
| Deleterious probability by DeFine | 0.9426 (Deleterious) |
|---|
| Entrez Gene ID | 6586 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SLIT3 (GeneCards) |
| Number of variants in SLIT3 in this database | 11 (view all the variants) |
| Full name | slit guidance ligand 3 |
| Band | 5q34-q35.1 |
| Other IDs | Vega: OTTHUMG00000130409 OMIM: 603745 HGNC: HGNC:11087 Ensembl: ENSG00000184347 |
| Other names | MEGF5, SLIL2, SLIT1, slit2, Slit-3 |
| Summary | The protein encoded by this gene is secreted, likely interacting with roundabout homolog receptors to effect cell migration. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012] |
| Individual ID | 28867142.30 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Male Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28867142 |
|---|---|
| Title | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
| Journal | American Journal of Human Genetics |
| Publication date | 2017.08 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 247; |