| Variant ID | 29627 |
|---|---|
| Entrez Gene ID | 3746 |
| Gene | KCNC1 (GeneCards) |
| Location | hg19 11:17793530-17793530
hg38 11:17771983-17771983 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000011.9:g.17793530 G>A (Genome Assembly: hg19) |
| 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 | 135006516 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.3397 |
| CADD Raw score (version 1.3) | 4.539841 (Deleterious) |
| FATHMM raw prediction score | 0.9607 (Tolerated) |
| SIFT score | 0.095 (Tolerated) |
| LRT score | 0.555 (Tolerated) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 1.405 (Tolerated) |
| PROVEAN score | -3.33 (Deleterious) |
| MetaSVM score | 0.672 (Deleterious) |
| MetaLR score | 0.946 (Deleterious) |
| MCAP score | 0.078 (Deleterious) |
| FitCons score | 0.487 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.94 |
| PhyloP score based on multiple alignment of 100 vertebrates | 6.858 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 18.175 |
| Deleterious probability by iFish2 | 0.6134 (Deleterious) |
| Deleterious probability by DeFine | 0.9735 (Deleterious) |
| Entrez Gene ID | 3746 (NCBI Gene) |
|---|---|
| Official Gene Symbol | KCNC1 (GeneCards) |
| Number of variants in KCNC1 in this database | 3 (view all the variants) |
| Full name | potassium voltage-gated channel subfamily C member 1 |
| Band | 11p15.1 |
| Other IDs | Vega: OTTHUMG00000166359 OMIM: 176258 HGNC: HGNC:6233 Ensembl: ENSG00000129159 |
| Other names | KV4, EPM7, NGK2, KV3.1 |
| Summary | This gene encodes a member of a family of integral membrane proteins that mediate the voltage-dependent potassium ion permeability of excitable membranes. Alternative splicing is thought to result in two transcript variants encoding isoforms that differ at their C-termini. These isoforms have had conflicting names in the literature: the longer isoform has been called both "b" and "alpha", while the shorter isoform has been called both "a" and "beta" (PMIDs 1432046, 12091563). [provided by RefSeq, Oct 2014] |
| Individual ID | 28714951.303 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28714951 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28714951 |
|---|---|
| Title | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder |
| Journal | Nat Neurosci |
| Publication date | 2017.07 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 376; |