Variant Details for PDZD2
Basic Information Top
| Gene Symbol: | PDZD2 ( AIPC,KIAA0300,PAPIN,PDZK3,PIN1 ) |
|---|---|
| Gene Full Name: | PDZ domain containing 2 |
| Band: | 5p13.3 |
| Quick Links | Entrez ID:23037; OMIM: 610697; Uniprot ID:PDZD2_HUMAN; ENSEMBL ID: ENSG00000133401; HGNC ID: 18486 |
| 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 | 1 | 1 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| 5 | 32087698 | G | A | PCR or Sanger sequencing | neutral | 0.0103 | Iossifov I, 2014 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|