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; |