Variant Details for IL17RA
Basic Information Top
Gene Symbol: | IL17RA ( CD217,CDw217,IL-17RA,IL17R,MGC10262,hIL-17R ) |
---|---|
Gene Full Name: | interleukin 17 receptor A |
Band: | 22q11.1 |
Quick Links | Entrez ID:23765; OMIM: 605461; Uniprot ID:I17RA_HUMAN; ENSEMBL ID: ENSG00000177663; HGNC ID: 5985 |
Relate to Another Database: | SFARIGene; denovo-db |
Variant Statistic Top
Click 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 | 2 | 0 | 0 | 0 | 1 | 0 | 3 |
CNVs/SVs Top
CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
---|---|---|---|---|---|---|---|---|
AutCNV0000269 | 22 | 22q11 | loss | Roubertie, 2001 | ||||
AutCNV0000270 | 22 | 22q11 | loss | Niklasson, 2002 |
NGS de novo Mutations Top
iFish (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 |
---|---|---|---|---|---|---|---|---|---|
No related data! |
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 |
---|---|---|---|---|---|---|---|---|---|
22 | 17588636 | c.C1065G | p.Y355X | Y | Griswold AJ, 2015 |
Linkage Regions Top
Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
---|---|---|---|---|---|---|---|
No related data! |