Variant Details for ASTN1
Basic Information Top
| Gene Symbol: | ASTN1 ( ASTN,KIAA1747 ) |
|---|---|
| Gene Full Name: | astrotactin 1 |
| Band: | 1q25.2 |
| Quick Links | Entrez ID:460; OMIM: 600904; Uniprot ID:ASTN1_HUMAN; ENSEMBL ID: ENSG00000152092; HGNC ID: 773 |
| 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 | 0 | 0 | 0 | 7 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| 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 |
|---|---|---|---|---|---|---|---|---|---|
| chr1 | 176999962 | 1204(G>A) | R331Q | Y | Lionel AC, 2014 | ||||
| chr1 | 176913063 | 2553(A>G) | I781V | Y | Lionel AC, 2014 | ||||
| chr1 | 176863877 | 2973(G>A) | G921S | Y | Lionel AC, 2014 | ||||
| chr1 | 176852074 | 3495(A>C) | M1095L | Y | Lionel AC, 2014 | ||||
| chr1 | 176833571 | 3946(G>A) | R1245H | Y | Lionel AC, 2014 | ||||
| chr1 | 176833481 | 4036(C>T) | T1275M | Y | Lionel AC, 2014 | ||||
| chr1 | 176833427 | 4090(A>G) | E1293G | Y | Lionel AC, 2014 |
Linkage Regions Top| Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||