| Variant ID | 982 |
|---|---|
| Entrez Gene ID | 6538 |
| Gene | SLC6A11 (GeneCards) |
| Location | hg19 3:10953839-10953839
hg38 3:10912154-10912154 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000003.11:g.10953839 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 319 |
| Amino acid changes in protein | A > V |
| 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 | 0.7241 |
| CADD Raw score (version 1.3) | 5.906984 (Deleterious) |
| FATHMM raw prediction score | 0.96891 (Tolerated) |
| SIFT score | 0.033 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.63 (Deleterious) |
| PROVEAN score | -3.27 (Deleterious) |
| MetaSVM score | 0.42 (Deleterious) |
| MetaLR score | 0.657 (Deleterious) |
| MCAP score | 0.151 (Deleterious) |
| FitCons score | 0.487 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.78 |
| PhyloP score based on multiple alignment of 100 vertebrates | 7.75 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 17.808 |
| Deleterious probability by iFish2 | 0.9727 (Deleterious) |
| Deleterious probability by DeFine | 0.9525 (Deleterious) |
| 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 | 27788131.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 27788131 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| OMIM ID | 120353 |
| Pubmed ID | 27788131 |
|---|---|
| Title | The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts. |
| Journal | PLoS Genetics |
| Publication date | 2016.10 |
| Disease | Human Skin Fibroblasts |
| Population | Caucasian |
| Number of cases | Male cases: 2; |