Variant Details for ALMS1
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Gene Symbol: | ALMS1 ( ALSS,DKFZp686A118,DKFZp686D1828,KIAA0328 ) |
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Gene Full Name: | Alstrom syndrome 1 |
Band: | 2p13.1 |
Quick Links | Entrez ID:7840; OMIM: 606844; Uniprot ID:ALMS1_HUMAN; ENSEMBL ID: ENSG00000116127; HGNC ID: 428 |
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 | 2 | 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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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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2 | 73800198 | A | C | Sanger sequencing | neutral | 0.1971 | De Rubeis S, 2014 | ||
2 | 73800198 | A | C | c.11191AAC>CAC | p.3731N>H | neutral | 0.1971 | Fromer M, 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! |