Variant Details for COL27A1
Basic Information Top
| Gene Symbol: | COL27A1 ( FLJ11895,KIAA1870,MGC11337 ) |
|---|---|
| Gene Full Name: | collagen, type XXVII, alpha 1 |
| Band: | 9q32 |
| Quick Links | Entrez ID:85301; OMIM: 608461; Uniprot ID:CORA1_HUMAN; ENSEMBL ID: ENSG00000196739; HGNC ID: 22986 |
| 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 | 3 | 1 | 0 | 0 | 0 | 0 | 4 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000543 | 9 | 9q32 | 116355507 | 117052553 | 697046 | gain | external link | Gregory, 2009 |
| AutCNV0004689 | 2 | 2q13 | 110496601 | 111388620 | 892019 | gain | external link | Yasuda Y, 2014 |
| AutCNV0005063 | 11 | 31652219 | 31764393 | 112174 | external link | Addis L, 2015 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 9 | 116930294 | C | T | PCR or Sanger sequencing | Iossifov I, 2014 |
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! | |||||||