Variant Details for PMM2
Basic Information Top
| Gene Symbol: | PMM2 ( CDG1,CDG1a,CDGS,PMM 2 ) |
|---|---|
| Gene Full Name: | phosphomannomutase 2 |
| Band: | 16p13.2 |
| Quick Links | Entrez ID:5373; OMIM: 601785; Uniprot ID:PMM2_HUMAN; ENSEMBL ID: ENSG00000140650; HGNC ID: 9115 |
| 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 | 5 | 1 | 0 | 0 | 0 | 4 | 10 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0004330 | 16 | 16p13.2 | 8920881 | 9239986 | 319105 | gain | external link | Sanders, 2011 |
| AutCNV0004329 | 16 | 16p13.2 | 8812663 | 9295537 | 482874 | gain | external link | Sanders, 2011 |
| AutCNV0003841 | 16 | 16p13.2 | 8898658 | 9246454 | 347796 | gain | external link | Levy, 2011 |
| AutCNV0003840 | 16 | 16p13.2 | 8808569 | 9302166 | 493597 | gain | external link | Levy, 2011 |
| AutCNV0003724 | 16 | 16p13.2 | 8941818 | 8958463 | 16645 | loss | external link | Gai, 2011 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 16 | 8906896 | C | A | HiSeq X and Sanger | C Yuen RK, 2017 |
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 |
|---|---|---|---|---|---|---|---|
| AutLD0000026 | 16p13.2 | 16 | D16S407 | 1.28 | - | - | Bailey, 1998 |
| AutLD0000037 | 16p13.2 | 16 | D16S407 | 1.59 | - | - | Monaco, 2001 |
| AutLD0000091 | 16p13 | 16 | D16S2619 | - | 2.17 | - | Buxbaum, 2004 |
| AutLD0000005 | 16p13.2 | 16 | ATA41E04 | 1.64 | - | - | McCauley, 2005 |