Variant Details for DNAH5
Basic Information Top
| Gene Symbol: | DNAH5 ( CILD3,DNAHC5,FLJ46759,HL1,KIAA1603,KTGNR,PCD ) |
|---|---|
| Gene Full Name: | dynein, axonemal, heavy chain 5 |
| Band: | 5p15.2 |
| Quick Links | Entrez ID:1767; OMIM: 603335; Uniprot ID:DYH5_HUMAN; ENSEMBL ID: ENSG00000039139; HGNC ID: 2950 |
| 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 | 4 | 4 | 0 | 0 | 0 | 0 | 8 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000131 | 5 | 5p15.2 | 13223293 | 14523293 | 1300000 | loss | external link | Jacquemont, 2006 |
| AutCNV0000020 | 5 | 5p15.1-15.2 | 9485490 | 15993000 | 6507510 | loss | external link | Szatmari, 2007 |
| AutCNV0000140 | 5 | 5p15.33-15.2 | 28949 | 13829933 | 13800984 | loss | external link | Marshall, 2008 |
| AutCNV0004241 | 5 | 5p15.2-p15.33 | 28949 | 13829933 | 13800984 | loss | external link | Sanders, 2011 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 5 | 13883123 | C | T | c.3064G>A | p.Val1022Ile | Sanger sequencing | neutral | 0.3085 | Sanders SJ, 2012 |
| 5 | 13923403 | * | 1D, -A | Sanger sequencing | O'Roak BJ, 2012 | ||||
| 5 | 13841076 | C | T | PCR or Sanger sequencing | deleterious | 0.8673 | Iossifov I, 2014 | ||
| 5 | 13714585 | G | A | Sanger sequencing | deleterious | 0.8673 | Yuen RK, 2016 |
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! | |||||||