Variant Details for DHTKD1
Basic Information Top
| Gene Symbol: | DHTKD1 ( DKFZp762M115,KIAA1630,MGC3090 ) |
|---|---|
| Gene Full Name: | dehydrogenase E1 and transketolase domain containing 1 |
| Band: | 10p14 |
| Quick Links | Entrez ID:55526; OMIM: NA; Uniprot ID:DHTK1_HUMAN; ENSEMBL ID: ENSG00000181192; HGNC ID: 23537 |
| 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 | 1 | 0 | 0 | 3 | 5 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0001964 | 10 | 10p14 | 12100735 | 12149939 | 49204 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| 10 | 12139947 | G | T | High-confidence mosaics | Resequencing | Lim ET, 2017 |
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 |
|---|---|---|---|---|---|---|---|
| AutLD0000050 | 10p14 | 10 | D10S1412 | 2.16 | - | - | Risch, 1999 |
| AutLD0000089 | 10p14 | 10 | D10S1412 | - | 1.52 | - | Buxbaum, 2004 |
| AutLD0000080 | 10p14 | 10 | D10S189 | 1.15 | - | - | Lamb, 2005 |