| Variant ID | 29840 |
|---|---|
| Entrez Gene ID | 3746 |
| Gene | KCNC1 (GeneCards) |
| Location | hg19 11:17793358-17793358
hg38 11:17771811-17771811 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000011.9:g.17793358 C>T (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 | 135006516 |
| MAF in gnomAD genome (version 2.0.1) | 0.0003 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs143670270 |
| EIGEN score | 0.2743 |
| CADD Raw score (version 1.3) | 0.939715 (Deleterious) |
| FATHMM raw prediction score | 0.41165 (Tolerated) |
| Deleterious probability by DeFine | 0.8616 (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 | 28867142.11 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Female 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; |