Variant Details for ARNTL
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Gene Symbol: | ARNTL ( BMAL1,BMAL1c,JAP3,MGC47515,MOP3,PASD3,TIC,bHLHe5 ) |
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Gene Full Name: | aryl hydrocarbon receptor nuclear translocator-like |
Band: | 11p15.3 |
Quick Links | Entrez ID:406; OMIM: 602550; Uniprot ID:BMAL1_HUMAN; ENSEMBL ID: ENSG00000133794; HGNC ID: 701 |
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 | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
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CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
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No related data! |
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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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11 | 13399901 | ACCCC | ACCCCC | HiSeq X and Sanger | C Yuen RK, 2017 |
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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! |