Variant Details for SORCS1
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Gene Symbol: | SORCS1 ( FLJ41758,FLJ43475,FLJ44957 ) |
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Gene Full Name: | sortilin-related VPS10 domain containing receptor 1 |
Band: | 10q25.1 |
Quick Links | Entrez ID:114815; OMIM: 606283; Uniprot ID:SORC1_HUMAN; ENSEMBL ID: ENSG00000108018; HGNC ID: 16697 |
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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AutCNV0001295 | 10 | 10q25.1 | 108767602 | 108847456 | 79854 | loss | 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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10 | 108447964 | C | T | c.1546G>A | p.Val516Met | Sanger sequencing | deleterious | 0.884 | Sanders SJ, 2012 |
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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! |