| Variant ID | 29853 |
|---|---|
| Entrez Gene ID | 144195 |
| Gene | SLC2A14 (GeneCards) |
| Location | hg19 12:7970433-7970433
hg38 12:7817837-7817837 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000012.11:g.7970433 A>G (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 | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0.0002 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs144567923 |
| Variant IDs in COSMIC (version 89) | 3998960 |
| Variant occurences in COSMIC | 1(haematopoietic_and_lymphoid_tissue) |
| EIGEN score | -0.3757 |
| CADD Raw score (version 1.3) | 0.17459 (Deleterious) |
| FATHMM raw prediction score | 0.03597 (Tolerated) |
| Deleterious probability by DeFine | 0.5844 (Deleterious) |
| Entrez Gene ID | 144195 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SLC2A14 (GeneCards) |
| Number of variants in SLC2A14 in this database | 2 (view all the variants) |
| Full name | solute carrier family 2 member 14 |
| Band | 12p13.31 |
| Other IDs | Vega: OTTHUMG00000168463 OMIM: 611039 HGNC: HGNC:18301 Ensembl: ENSG00000173262 |
| Other names | GLUT14, SLC2A3P3 |
| Summary | Members of the glucose transporter (GLUT) family, including SLC2A14, are highly conserved integral membrane proteins that transport hexoses such as glucose and fructose into all mammalian cells. GLUTs show tissue and cell-type specific expression (Wu and Freeze, 2002 [PubMed 12504846]).[supplied by OMIM, Mar 2008] |
| Individual ID | 28867142.14 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Female 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; |