Variant Details for ATP5C1
Basic Information Top
| Gene Symbol: | ATP5C1 ( ATP5C,ATP5CL1 ) |
|---|---|
| Gene Full Name: | ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1 |
| Band: | 10p14 |
| Quick Links | Entrez ID:509; OMIM: 108729; Uniprot ID:ATPG_HUMAN; ENSEMBL ID: ENSG00000165629; HGNC ID: 833 |
| 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 | 1 | 0 | 0 | 0 | 0 | 3 | 4 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0004105 | 10 | 10p14 | 7794675 | 8072441 | 277766 | gain | 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 |
|---|---|---|---|---|---|---|---|---|---|
| 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 |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
Linkage Regions Top| Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
|---|---|---|---|---|---|---|---|
| AutLD0000050 | 10p14 | 10 | D10S1412 | 2.16 | - | - | Risch, 1999 |
| AutLD0000089 | 10p14 | 10 | D10S1412 | - | 1.52 | - | Buxbaum, 2004 |
| AutLD0000080 | 10p14 | 10 | D10S189 | 1.15 | - | - | Lamb, 2005 |