Variant Details for KNDC1
Basic Information Top
| Gene Symbol: | KNDC1 ( C10orf23,FLJ16067,RASGEF2,bB439H18.3 ) |
|---|---|
| Gene Full Name: | kinase non-catalytic C-lobe domain (KIND) containing 1 |
| Band: | 10q26.3 |
| Quick Links | Entrez ID:85442; OMIM: NA; Uniprot ID:VKIND_HUMAN; ENSEMBL ID: ENSG00000171798; HGNC ID: 29374 |
| 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 | 7 | 2 | 0 | 0 | 0 | 0 | 9 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000559 | 10 | 10q26.3 | 133851535 | 135524747 | 1673212 | loss | external link | Gregory, 2009 |
| AutCNV0000558 | 10 | 10q26.3 | 133753553 | 135524747 | 1771194 | loss | external link | Gregory, 2009 |
| AutCNV0000557 | 10 | 10q26.3 | 133753553 | 135524747 | 1771194 | loss | external link | Gregory, 2009 |
| AutCNV0000556 | 10 | 10q26.3 | 133327068 | 135524747 | 2197679 | loss | external link | Gregory, 2009 |
| AutCNV0000555 | 10 | 10q26.3 | 132726059 | 135524747 | 2798688 | loss | external link | Gregory, 2009 |
| AutCNV0000560 | 10 | 10q26.3 | 134869734 | 135524747 | 655013 | gain | external link | Gregory, 2009 |
| AutCNV0001980 | 10 | 10q26.3 | 134826117 | 135422460 | 596343 | gain | external link | Pinto, 2010 |
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 | 135027123 | A | G | strong | Iossifov I, 2014 | ||||
| 10 | 135027506 | ACC | AC | HiSeq X and Sanger | C Yuen RK, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 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! | |||||||