Variant Details for AMD1
Basic Information Top
| Gene Symbol: | AMD1 ( ADOMETDC,AMD,DKFZp313L1234,FLJ26964,SAMDC ) |
|---|---|
| Gene Full Name: | adenosylmethionine decarboxylase 1 |
| Band: | 6q21 |
| Quick Links | Entrez ID:262; OMIM: 180980; Uniprot ID:DCAM_HUMAN; ENSEMBL ID: ENSG00000123505; HGNC ID: 457 |
| 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 | 2 | 0 | 1 | 1 | 0 | 0 | 4 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000075 | 6 | 6q16.3-21 | 104581307 | 112706307 | 8125000 | gain | external link | Szatmari, 2007 |
| AutCNV0000021 | 6 | 6q16.3-21 | 104581307 | 112706307 | 8125000 | gain | external link | Szatmari, 2007 |
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 |
|---|---|---|---|---|---|---|
| 6 | 111213267 | G | A | mosaic | PASM | Dou Y, 2017 |
NGS Other Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 6 | 111213937 | G | A | c.172-1G>A | p.Glu58? | Bi C, 2012 |
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 |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||