Variant Details for KATNAL2
Basic Information Top
| Gene Symbol: | KATNAL2 ( DKFZp667C165,MGC33211 ) |
|---|---|
| Gene Full Name: | katanin p60 subunit A-like 2 |
| Band: | 18q21.1 |
| Quick Links | Entrez ID:83473; OMIM: NA; Uniprot ID:KATL2_HUMAN; ENSEMBL ID: ENSG00000167216; HGNC ID: 25387 |
| 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 | 4 | 0 | 4 | 0 | 1 | 11 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0005671 | 18 | 18 | Krumm N, 2015 | |||||
| AutCNV0005658 | 18 | 18 | Krumm N, 2015 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 18 | 44589733 | G | R | Sanger sequencing | Sanders SJ, 2012 | ||||
| 18 | 44603833 | G | S | Sanger sequencing | O'Roak BJ, 2012 | ||||
| 18 | 44589434 | A | c.429del | Stessman HA, 2017 | |||||
| 18 | 44595909 | C | c.727T>C | p.Phe243Leu | Stessman HA, 2017 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| chr18 | 44584646 | C | T | p.Q53X | Y | Yuen RK, 2015 | |||
| 18 | 44625634 | T | A | Iossifov I, 2015 | |||||
| 18 | 44589658 | C | T | Iossifov I, 2015 | |||||
| 18 | 44589435 | Iossifov I, 2015 |
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 |
|---|---|---|---|---|---|---|---|
| AutLD0000141 | 18q12.1-21.1 | 18 | D18S536/D18S970 | - | - | 0.0022 | Lauritsen, 2006 |