Variant Details for KCNH8
Basic Information Top
| Gene Symbol: | KCNH8 ( ELK,ELK1,Kv12.1,elk3 ) |
|---|---|
| Gene Full Name: | potassium voltage-gated channel, subfamily H (eag-related), member 8 |
| Band: | 3p24.3 |
| Quick Links | Entrez ID:131096; OMIM: 608260; Uniprot ID:KCNH8_HUMAN; ENSEMBL ID: ENSG00000183960; HGNC ID: 18864 |
| Relate to Another Database: | SFARIGene; denovo-db |
Variant Statistic TopClick the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default. Chromosome coordinates: hg19
| Genetic Category | CNVs/SVs | de novo Mutations | Mosaics SNVs | NGS Other Mutations | Low-Scale Gene Mutations | Linkage Regions | Total |
|---|---|---|---|---|---|---|---|
| Number | 2 | 1 | 0 | 0 | 0 | 0 | 3 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000351 | 3 | 3p24.3 | 14724996 | 23824996 | 9100000 | external link | Zwaag, 2009 | |
| AutCNV0004218 | 3 | 3p24.3 | 19152994 | 19665295 | 512301 | gain | external link | Sanders, 2011 |
NGS de novo Mutations TopiFish (integrated Functional inference of SNVs in human) is based on gene/gene family customized models to classify missense mutations.
| Chr | Pos | Ref | Alt | Coding | AA | Validated Method | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 3 | 19491606 | C | T | PCR or Sanger sequencing | deleterious | 0.992 | Iossifov I, 2014 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| No related data! | ||||||
NGS Other Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
Low-Scale Gene Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
Linkage Regions Top| Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||