Variant Details for ABCC5
Basic Information Top
| Gene Symbol: | ABCC5 ( ABC33,DKFZp686C1782,EST277145,MOAT-C,MOATC,MRP5,SMRP,pABC11 ) |
|---|---|
| Gene Full Name: | ATP-binding cassette, sub-family C (CFTR/MRP), member 5 |
| Band: | 3q27.1 |
| Quick Links | Entrez ID:10057; OMIM: 605251; Uniprot ID:MRP5_HUMAN; ENSEMBL ID: ENSG00000114770; HGNC ID: 56 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|
| 3 | 183682987 | T | G | Sanger sequencing | deleterious | 0.9764 | De Rubeis S, 2014 | ||
| 3 | 183667631 | G | A | PCR or Sanger sequencing | deleterious | 0.9982 | 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 |
|---|---|---|---|---|---|---|---|
| AutLD0000144 | 3q26.31-27.3 | 3 | - | - | 4.85 | - | Allen-Brady, 2008 |