Variant Details for TMEM8A
Basic Information Top
| Gene Symbol: | TMEM8A ( M83,TMEM6,TMEM8 ) |
|---|---|
| Gene Full Name: | transmembrane protein 8A |
| Band: | 16p13.3 |
| Quick Links | Entrez ID:58986; OMIM: NA; Uniprot ID:TMM8A_HUMAN; ENSEMBL ID: ENSG00000129925; HGNC ID: 17205 |
| 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 | 3 | 1 | 0 | 0 | 0 | 2 | 6 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0004325 | 16 | 16p13.3 | 60835 | 1313637 | 1252802 | loss | external link | Sanders, 2011 |
| AutCNV0004146 | 16 | 16p13.3 | 395989 | 494447 | 98458 | gain | external link | Levy, 2011 |
| AutCNV0003839 | 16 | 16p13.3 | 81530 | 1315850 | 1234320 | loss | external link | Levy, 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 | 426580 | C | T | c.868G>A | p.Gly290Arg | Sanger sequencing | neutral | 0.0876 | Sanders SJ, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 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 |
|---|---|---|---|---|---|---|---|
| AutLD0000091 | 16p13 | 16 | D16S2619 | - | 2.17 | - | Buxbaum, 2004 |
| AutLD0000138 | 16p13.3 | 16 | D16S748 | - | - | 0.00117 | Lauritsen, 2006 |