Variant Details for RFX2
Basic Information Top
| Gene Symbol: | RFX2 ( FLJ14226 ) |
|---|---|
| Gene Full Name: | regulatory factor X, 2 (influences HLA class II expression) |
| Band: | 19p13.3 |
| Quick Links | Entrez ID:5990; OMIM: 142765; Uniprot ID:RFX2_HUMAN; ENSEMBL ID: ENSG00000087903; HGNC ID: 9983 |
| 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 | 1 | 3 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 19 | 6044241 | G | A | p.Pro48Leu | Sanger sequencing | neutral | 0.058 | Sanders SJ, 2012 | |
| 19 | 6013032 | C | T | Sanger sequencing | neutral | 0.058 | De Rubeis S, 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 |
|---|---|---|---|---|---|---|---|
| AutLD0000068 | 19p13.3 | 19 | D19S209 | - | - | 0.003 | Schellenberg, 2006 |