Variant Details for KCNMA1
Basic Information Top
| Gene Symbol: | KCNMA1 ( BKTM,DKFZp686K1437,KCa1.1,MGC71881,MaxiK,SAKCA,SLO,SLO-ALPHA,SLO1,bA205K10.1,mSLO1 ) |
|---|---|
| Gene Full Name: | potassium large conductance calcium-activated channel, subfamily M, alpha member 1 |
| Band: | 10q22.3 |
| Quick Links | Entrez ID:3778; OMIM: 600150; Uniprot ID:KCMA1_HUMAN; ENSEMBL ID: ENSG00000156113; HGNC ID: 6284 |
| 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 | 1 | 4 | 1 | 0 | 1 | 1 | 8 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0003321 | 10 | 10q22.3 | 79341734 | 79620782 | 279048 | gain | external link | Gai, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 10 | 78869948 | A | C | c.1114T>G | p.Glu372Val | Sanger sequencing | deleterious | 0.9289 | Neale BM, 2012 |
| 10 | 78943225 | C | T | c.762G>A | p.Thr254Thr | Sanger sequencing | Neale BM, 2012 | ||
| 10 | 78869948 | A | C | Sanger sequencing | deleterious | 0.9289 | De Rubeis S, 2014 | ||
| 10 | 78943225 | C | T | Sanger sequencing | De Rubeis S, 2014 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| 10 | 78870005 | C | T | Parental Mosaic Transmitted | Krupp DR, 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 |
|---|---|---|---|---|---|---|---|---|---|
| Laumonnier, 2006 |
Linkage Regions Top| Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
|---|---|---|---|---|---|---|---|
| AutLD0000036 | 10q22.3 | 10 | D10S201 | 1.22 | - | - | Monaco, 2001 |