Variant Details for KLHDC10
Basic Information Top
| Gene Symbol: | KLHDC10 ( KIAA0265,slim ) |
|---|---|
| Gene Full Name: | kelch domain containing 10 |
| Band: | 7q32.2 |
| Quick Links | Entrez ID:23008; OMIM: NA; Uniprot ID:KLD10_HUMAN; ENSEMBL ID: ENSG00000128607,ENSG00000226848,ENSG00000237785; HGNC ID: 22194 |
| 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 | 0 | 1 | 0 | 0 | 0 | 3 | 4 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| No related data! | ||||||||
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 |
|---|---|---|---|---|---|---|---|---|---|
| 7 | 129736794 | G | A | c.200G>A | p.Arg67Lys | Not_tested | deleterious | 0.7239 | Takata A, 2018 |
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 |
|---|---|---|---|---|---|---|---|
| AutLD0000077 | 7q32.1-32.3 | 7 | D7S530/D7S640 | 2.31 | - | - | Lamb, 2005 |
| AutLD0000065 | 7q32 | 7 | D7S530 | - | - | 0.0006 | Schellenberg, 2006 |
| AutLD0000153 | 7q31.31-q32.3 | 7 | rs1990790 | 1.97 | - | - | Allen-Brady, 2010 |