| Variant ID | 5010 |
|---|---|
| Entrez Gene ID | 6538 |
| Gene | SLC6A11 (GeneCards) |
| Location | hg19 3:10955261-10955261
hg38 3:10913576-10913576 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000003.11:g.10955261 T>A (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 | 198022430 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2894 |
| CADD Raw score (version 1.3) | 0.006098 (Deleterious) |
| FATHMM raw prediction score | 0.10059 (Tolerated) |
| Deleterious probability by DeFine | 0.3198 (Neutral) |
| Entrez Gene ID | 6538 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SLC6A11 (GeneCards) |
| Number of variants in SLC6A11 in this database | 3 (view all the variants) |
| Full name | solute carrier family 6 member 11 |
| Band | 3p25.3 |
| Other IDs | Vega: OTTHUMG00000129718 OMIM: 607952 HGNC: HGNC:11044 Ensembl: ENSG00000132164 |
| Other names | GAT3, GAT4, GAT-3 |
| Summary | The protein encoded by this gene is a sodium-dependent transporter that uptakes gamma-aminobutyric acid (GABA), an inhibitory neurotransmitter, which ends the GABA neurotransmission. Defects in this gene may result in epilepsy, behavioral problems, or intellectual problems. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015] |
| Individual ID | 29217584.09 (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; |