| Variant ID | 1539 |
|---|---|
| Entrez Gene ID | 27131 |
| Gene | SNX5 (GeneCards) |
| Location | hg19 20:17930778-17930778
hg38 20:17950134-17950134 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 v2 |
| Mutation(HGVS format) | NC_000020.10:g.17930778_17930778 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_152227.2 |
| mRNA length | 2308 |
| Reference length | 63025520 |
| Deleterious probability by DeFine | 0.9449 (Deleterious) |
|---|
| Entrez Gene ID | 27131 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SNX5 (GeneCards) |
| Number of variants in SNX5 in this database | 2 (view all the variants) |
| Full name | sorting nexin 5 |
| Band | 20p11.23 |
| Other IDs | Vega: OTTHUMG00000031953 OMIM: 605937 HGNC: HGNC:14969 Ensembl: ENSG00000089006 |
| Other names | None |
| Summary | This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein functions in endosomal sorting, the phosphoinositide-signaling pathway, and macropinocytosis. This gene may play a role in the tumorigenesis of papillary thyroid carcinoma. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2013] |
| Individual ID | 28867142.28 (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; |