Variant Details for KLHL1
Basic Information Top
| Gene Symbol: | KLHL1 ( FLJ30047,KIAA1490,MRP2 ) |
|---|---|
| Gene Full Name: | kelch-like 1 (Drosophila) |
| Band: | 13q21.33 |
| Quick Links | Entrez ID:57626; OMIM: 605332; Uniprot ID:KLHL1_HUMAN; ENSEMBL ID: ENSG00000150361; HGNC ID: 6352 |
| 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 | 0 | 0 | 1 | 0 | 0 | 4 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000266 | 13 | 13q14-22 | 40602000 | 78901999 | 38299999 | loss | external link | Steele, 2001 |
| AutCNV0002819 | 13 | 13q21.33 | 70668843 | 70783011 | 114168 | gain | external link | Pinto, 2010 |
| AutCNV0005844 | 13 | 13q21.33 | 69452461 | 69471066 | 18605 | loss | external link | Egger G, 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 |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
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 |
|---|---|---|---|---|---|---|---|---|---|
| 13 | 70370894 | T | C | Y | Cukier HN, 2014 |
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! | |||||||