Variant Details for CCDC88C
Basic Information Top
| Gene Symbol: | CCDC88C ( DAPLE,FLJ00354,HkRP2,KIAA1509 ) |
|---|---|
| Gene Full Name: | coiled-coil domain containing 88C |
| Band: | 14q32.11-q32.12 |
| Quick Links | Entrez ID:440193; OMIM: 611204; Uniprot ID:DAPLE_HUMAN; ENSEMBL ID: ENSG00000015133; HGNC ID: 19967 |
| 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 | 2 | 0 | 0 | 0 | 0 | 2 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 14 | 91744403 | G | C | p.Leu1641Val | Sanger | neutral | 0.0868 | Krumm N, 2015 | |
| 14 | 91766302 | C | T | c.3748G>A | p.Glu1250Lys | Not_tested | deleterious | 0.7641 | 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 |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||