| Variant ID | 15442 |
|---|---|
| Entrez Gene ID | 9152 |
| Gene | SLC6A5 (GeneCards) |
| Location | hg19 11:20626534-20626534
hg38 11:20604988-20604988 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000011.9:g.20626534 C>T (Genome Assembly: GRCh37) |
| Exon or Intron | NA |
|---|---|
| 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 | 135006516 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.3233 |
| CADD Raw score (version 1.3) | 0.328592 (Deleterious) |
| FATHMM raw prediction score | 0.33205 (Tolerated) |
| Deleterious probability by DeFine | 0.5367 (Deleterious) |
| Entrez Gene ID | 9152 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SLC6A5 (GeneCards) |
| Number of variants in SLC6A5 in this database | 3 (view all the variants) |
| Full name | solute carrier family 6 member 5 |
| Band | 11p15.1 |
| Other IDs | Vega: OTTHUMG00000166024 OMIM: 604159 HGNC: HGNC:11051 Ensembl: ENSG00000165970 |
| Other names | NET1, GLYT2, HKPX3, GLYT-2 |
| Summary | This gene encodes a sodium- and chloride-dependent glycine neurotransmitter transporter. This integral membrane glycoprotein is responsible for the clearance of extracellular glycine during glycine-mediated neurotransmission. This protein is found in glycinergic axons and maintains a high presynaptic pool of neurotransmitter at glycinergic synapses. Mutations in this gene cause hyperekplexia; a heterogenous neurological disorder characterized by exaggerated startle responses and neonatal apnea. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016] |
| Individual ID | 29217584.11 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |