Overview

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)

Other information

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

Annotations and predictions

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 #1

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

Publication #1: 28867142

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;