Variant Details for GRAMD1C
Basic Information Top
| Gene Symbol: | GRAMD1C ( DKFZp434C0328,DKFZp686K06117,FLJ35862,FLJ40464 ) |
|---|---|
| Gene Full Name: | GRAM domain containing 1C |
| Band: | 3q13.31 |
| Quick Links | Entrez ID:54762; OMIM: NA; Uniprot ID:GRM1C_HUMAN; ENSEMBL ID: ENSG00000178075; HGNC ID: 25252 |
| 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 | 4 | 1 | 0 | 1 | 0 | 1 | 7 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0002447 | 3 | 3q13.31 | 113582767 | 113620344 | 37577 | loss | external link | Pinto, 2010 |
| AutCNV0001674 | 3 | 3q13.31 | 113582767 | 113619872 | 37105 | loss | external link | Pinto, 2010 |
| AutCNV0004052 | 3 | 3q13.31 | 113572210 | 113619679 | 47469 | loss | external link | Levy, 2011 |
| AutCNV0005105 | 7 | 69955482 | 70217682 | 262200 | loss | external link | Fan Y, 2016 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 3 | 113656968 | C | T | Sanger sequencing | neutral | 0.0888 | Yuen RK, 2016 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 3 | 113652385 | C | T | R413* | Toma C, 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 |
|---|---|---|---|---|---|---|---|
| AutLD0000143 | 3q13.2-13.31 | 3 | - | - | 5.58 | - | Allen-Brady, 2008 |