| Variant ID | 29937 |
|---|---|
| Entrez Gene ID | 57468 |
| Gene | SLC12A5 (GeneCards) |
| Location | hg19 20:44681697-44681697
hg38 20:46053058-46053058 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000020.10:g.44681697 G>A (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 | 63025520 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.9386 |
| CADD Raw score (version 1.3) | 6.987594 (Deleterious) |
| FATHMM raw prediction score | 0.99259 (Tolerated) |
| SIFT score | 0.001 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 3.715 (Deleterious) |
| PROVEAN score | -4.7 (Deleterious) |
| MetaSVM score | 1.099 (Deleterious) |
| MetaLR score | 0.945 (Deleterious) |
| MCAP score | 0.651 (Deleterious) |
| FitCons score | 0.583 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.5 |
| PhyloP score based on multiple alignment of 100 vertebrates | 9.897 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 16.348 |
| Deleterious probability by iFish2 | 0.9941 (Deleterious) |
| Deleterious probability by DeFine | 0.9473 (Deleterious) |
| Entrez Gene ID | 57468 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SLC12A5 (GeneCards) |
| Number of variants in SLC12A5 in this database | 2 (view all the variants) |
| Full name | solute carrier family 12 member 5 |
| Band | 20q13.12 |
| Other IDs | Vega: OTTHUMG00000032638 OMIM: 606726 HGNC: HGNC:13818 Ensembl: ENSG00000124140 |
| Other names | KCC2, EIG14, hKCC2, EIEE34 |
| Summary | K-Cl cotransporters are proteins that lower intracellular chloride concentrations below the electrochemical equilibrium potential. The protein encoded by this gene is an integral membrane K-Cl cotransporter that can function in either a net efflux or influx pathway, depending on the chemical concentration gradients of potassium and chloride. The encoded protein can act as a homomultimer, or as a heteromultimer with other K-Cl cotransporters, to maintain chloride homeostasis in neurons. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Sep 2008] |
| Individual ID | 28867142.24 (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; |