Variant Details for MKKS
Basic Information Top
| Gene Symbol: | MKKS ( BBS6,HMCS,KMS,MKS ) |
|---|---|
| Gene Full Name: | McKusick-Kaufman syndrome |
| Band: | 20p12.2 |
| Quick Links | Entrez ID:8195; OMIM: 604896; Uniprot ID:MKKS_HUMAN; ENSEMBL ID: ENSG00000125863; HGNC ID: 7108 |
| 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 | 0 | 0 | 6 | 0 | 0 | 7 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000294 | 20 | 20pter-12.2 | 9052000 | 11952000 | 2900000 | loss | external link | Sauter, 2003 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 20 | 10393443 | CT | C | Kalsner L, 2018 | |||||
| 20 | 10389422 | T | C | Kalsner L, 2018 | |||||
| 20 | 10389422 | T | C | Kalsner L, 2018 | |||||
| 20 | 10393304 | G | T | Kalsner L, 2018 | |||||
| 20 | 10394147 | C | T | Kalsner L, 2018 | |||||
| 20 | 10393443 | CT | C | Kalsner L, 2018 |
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! | |||||||