Variant Details for ATP11C
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Gene Symbol: | ATP11C ( ATPIG,ATPIQ ) |
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Gene Full Name: | ATPase, class VI, type 11C |
Band: | Xq27.1 |
Quick Links | Entrez ID:286410; OMIM: 300516; Uniprot ID:AT11C_HUMAN; ENSEMBL ID: ENSG00000101974; HGNC ID: 13554 |
Relate to Another Database: | SFARIGene; denovo-db |
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Click 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 |
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Number | 1 | 1 | 0 | 0 | 0 | 0 | 2 |
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CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
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AutCNV0000804 | X | Xq27.1 | 138721660 | 138888996 | 167336 | gain | external link | Pinto, 2010 |
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iFish (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 |
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X | 138864752 | T | A | PCR or Sanger sequencing | deleterious | 0.7901 | Iossifov I, 2014 |
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Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
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No related data! |
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Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
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No related data! |
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Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
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No related data! |
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Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
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No related data! |