| Variant ID | 29742 |
|---|---|
| Entrez Gene ID | 9389 |
| Gene | SLC22A14 (GeneCards) |
| Location | hg19 3:38349069-38349069
hg38 3:38307578-38307578 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000003.11:g.38349069 C>T (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 | NA |
| mRNA length | NA |
| Reference length | 198022430 |
| MAF in gnomAD genome (version 2.0.1) | 0.00006464 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs141748526 |
| EIGEN score | 0.2963 |
| CADD Raw score (version 1.3) | -0.319074 (Deleterious) |
| FATHMM raw prediction score | 0.23385 (Tolerated) |
| Deleterious probability by DeFine | 0.9072 (Deleterious) |
| Entrez Gene ID | 9389 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SLC22A14 (GeneCards) |
| Number of variants in SLC22A14 in this database | 3 (view all the variants) |
| Full name | solute carrier family 22 member 14 |
| Band | 3p22.2 |
| Other IDs | Vega: OTTHUMG00000131082 OMIM: 604048 HGNC: HGNC:8495 Ensembl: ENSG00000144671 |
| Other names | OCTL2, OCTL4, ORCTL4 |
| Summary | This gene encodes a member of the organic-cation transporter family. It is located in a gene cluster with another member of the family, organic cation transporter like 3. The encoded protein is a transmembrane protein which is thought to transport small molecules and since this protein is conserved among several species, it is suggested to have a fundamental role in mammalian systems. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016] |
| Individual ID | 28867142.29 (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; |