Variant Details for MICAL3
Basic Information Top
| Gene Symbol: | MICAL3 ( KIAA0819,MGC189703 ) |
|---|---|
| Gene Full Name: | microtubule associated monoxygenase, calponin and LIM domain containing 3 |
| Band: | 22q11.21 |
| Quick Links | Entrez ID:57553; OMIM: 608882; Uniprot ID:MICA3_HUMAN; ENSEMBL ID: ENSG00000093100,ENSG00000243156; HGNC ID: 24694 |
| 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 | 3 | 3 | 0 | 0 | 0 | 1 | 7 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000269 | 22 | 22q11 | loss | Roubertie, 2001 | ||||
| AutCNV0000270 | 22 | 22q11 | loss | Niklasson, 2002 | ||||
| AutCNV0000392 | 22 | 22q11.2 | 17920000 | 25970000 | 8050000 | gain | external link | Ramelli, 2008 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 22 | 18387403 | T | C | c.467A>G | p.His156Arg | Sanger sequencing | deleterious | 0.9836 | Jiang YH, 2013 |
| 22 | 18387403 | T | C | Sanger sequencing | deleterious | 0.9836 | Yuen RK, 2016 | ||
| 22 | 18387403 | c.A467G | deleterious | 0.9836 | Jiang YH, 2013 |
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 |
|---|---|---|---|---|---|---|---|
| AutLD0000028 | 22q11.21 | 22 | D22S264 | 1.3 | - | - | Bailey, 1998 |