Variant Details for AHI1
Basic Information Top
| Gene Symbol: | AHI1 ( AHI-1,DKFZp686J1653,FLJ14023,FLJ20069,JBTS3,ORF1,dJ71N10.1 ) |
|---|---|
| Gene Full Name: | Abelson helper integration site 1 |
| Band: | 6q23.3 |
| Quick Links | Entrez ID:54806; OMIM: 608894; Uniprot ID:AHI1_HUMAN; ENSEMBL ID: ENSG00000135541; HGNC ID: 21575 |
| 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 | 3 | 0 | 2 | 0 | 2 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| 6 | 135754219 | G | T | PCR or Sanger sequencing | Iossifov I, 2014 | ||||
| 6 | 135774505 | G | A | PCR or Sanger sequencing | deleterious | 0.5125 | Iossifov I, 2014 | ||
| 6 | 135640595 | G | C | Sanger and Sequenom | Michaelson JJ, 2012 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 6 | 135611614 | C | A | p.D1179Y | Y | neutral | 0.4875 | Brett M, 2014 | |
| 6 | 135644371 | T | C | p.E1086G | Y | deleterious | 0.5125 | Brett M, 2014 |
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 |
|---|---|---|---|---|---|---|---|
| AutLD0000130 | 6q23.3 | 6 | D6S1009 | - | - | 0.00741 | Lauritsen, 2006 |
| AutLD0000152 | 6q22.32-q24.1 | 6 | rs1570056 | 1.81 | - | - | Allen-Brady, 2010 |