Variant Details for KCNH7
Basic Information Top
| Gene Symbol: | KCNH7 ( ERG3,HERG3,Kv11.3,MGC45986 ) |
|---|---|
| Gene Full Name: | potassium voltage-gated channel, subfamily H (eag-related), member 7 |
| Band: | 2q24.2 |
| Quick Links | Entrez ID:90134; OMIM: 608169; Uniprot ID:KCNH7_HUMAN; ENSEMBL ID: ENSG00000184611; HGNC ID: 18863 |
| 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 | 2 | 1 | 0 | 0 | 0 | 5 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000409 | 2 | 2q24.1-24.3 | 152815504 | 165266754 | 12451250 | loss | external link | Gregory, 2009 |
| AutCNV0004778 | 8 | 8q13.2 | gain | Vi?as-Jornet M, 2014 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 2 | 163302876 | G | C | Sanger sequencing | deleterious | 0.9832 | De Rubeis S, 2014 | ||
| 2 | 163241305 | A | C | c.2855T>G | p.Ile952Arg | Not_tested | neutral | 0.1627 | Takata A, 2018 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| 2 | 163369171 | A | G | High-confidence mosaics | Resequencing | Lim ET, 2017 |
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! | |||||||