Variant Details for SNHG5
Basic Information Top
Gene Symbol: | SNHG5 ( C6orf160,MGC16362,NCRNA00044,U50HG,bA33E24.2 ) |
---|---|
Gene Full Name: | small nucleolar RNA host gene 5 (non-protein coding) |
Band: | 6q14.3 |
Quick Links | Entrez ID:387066; OMIM: 613263; Uniprot ID:; ENSEMBL ID: ; HGNC ID: 21026 |
Relate to Another Database: | SFARIGene; denovo-db |
Variant Statistic Top
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 |
---|---|---|---|---|---|---|---|
Number | 1 | 0 | 0 | 0 | 0 | 1 | 2 |
CNVs/SVs Top
CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
---|---|---|---|---|---|---|---|---|
AutCNV0004868 | 6 | 6q14.1-q15 | 83648997 | 88613065 | 4964068 | loss | external link | Quintela I, 2015 |
NGS de novo Mutations Top
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 |
---|---|---|---|---|---|---|---|---|---|
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 |
---|---|---|---|---|---|---|---|
AutLD0000088 | 6q14.3 | 6 | D6S1270 | - | 1.35 | - | Buxbaum, 2004 |