Variant Details for COL7A1
Basic Information Top
| Gene Symbol: | COL7A1 ( EBD1,EBDCT,EBR1 ) |
|---|---|
| Gene Full Name: | collagen, type VII, alpha 1 |
| Band: | 3p21.31 |
| Quick Links | Entrez ID:1294; OMIM: 120120; Uniprot ID:CO7A1_HUMAN; ENSEMBL ID: ENSG00000114270; HGNC ID: 2214 |
| 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 | 7 | 0 | 0 | 0 | 0 | 7 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 3 | 48621941 | G | A | c.4096C>T | p.Arg1366Trp | Sanger sequencing | neutral | 0.329 | Jiang YH, 2013 |
| 3 | 48606872 | C | T | Sanger sequencing | neutral | 0.3062 | De Rubeis S, 2014 | ||
| 3 | 48606873 | G | T | Sanger sequencing | De Rubeis S, 2014 | ||||
| 3 | 48606874 | T | G | Sanger sequencing | neutral | 0.027 | De Rubeis S, 2014 | ||
| 3 | 48621941 | G | A | Sanger sequencing | neutral | 0.329 | Yuen RK, 2016 | ||
| 3 | 48611123 | C | T | c.6573G>A | p.Pro2191Pro | Not_tested | Takata A, 2018 | ||
| 3 | 48621941 | c.C4096T | neutral | 0.329 | 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 |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||