Variant Details for KIAA1217
Basic Information Top
| Gene Symbol: | KIAA1217 ( DKFZp761L0424,MGC31990,SKT ) |
|---|---|
| Gene Full Name: | KIAA1217 |
| Band: | 10p12.2-p12.1 |
| Quick Links | Entrez ID:56243; OMIM: NA; Uniprot ID:SKT_HUMAN; ENSEMBL ID: ENSG00000120549; HGNC ID: 25428 |
| 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 | 3 | 0 | 0 | 0 | 2 | 5 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 10 | 24802273 | T | C | c.2087T>C | p.Leu696Pro | Sanger sequencing | deleterious | 0.5963 | Jiang YH, 2013 |
| 10 | 24802273 | T | C | Sanger sequencing | deleterious | 0.5963 | Yuen RK, 2016 | ||
| 10 | 24802273 | c.T2087C | deleterious | 0.5963 | Jiang YH, 2013 |
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 |
|---|---|---|---|---|---|---|---|
| AutLD0000022 | 10p12.1 | 10 | D10S197 | 1.55 | - | - | Bailey, 1998 |
| AutLD0000034 | 10p12.1 | 10 | D10S197 | 1.08 | - | - | Monaco, 2001 |