Variant Details for EFCAB5
Basic Information Top
| Gene Symbol: | EFCAB5 ( DKFZp434G2420,DKFZp686I0638,FLJ46247 ) |
|---|---|
| Gene Full Name: | EF-hand calcium binding domain 5 |
| Band: | 17q11.2 |
| Quick Links | Entrez ID:374786; OMIM: NA; Uniprot ID:EFCB5_HUMAN; ENSEMBL ID: ENSG00000176927; HGNC ID: 24801 |
| Relate to Another Database: | SFARIGene; denovo-db |
Variant Statistic TopClick 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 | 0 | 0 | 0 | 1 | 1 | 6 | 8 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| No related data! | ||||||||
NGS de novo Mutations TopiFish (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 |
|---|---|---|---|---|---|---|---|---|---|
| 17 | 28268857 | G | A | Y | Cukier HN, 2014 |
Low-Scale Gene Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 17 | 28414130 | delT | L1210fs | Y | Egawa J, 2015 |
Linkage Regions Top| Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
|---|---|---|---|---|---|---|---|
| AutLD0000039 | 17q11.2 | 17 | HTTINT2 | 2.34 | - | - | Monaco, 2001 |
| AutLD0000016 | 17q11.2 | 17 | D17S1800 | 2.83 | - | - | Yonan, 2003 |
| AutLD0000008 | 17q11.2 | 17 | D17S1294 | 2.85 | - | - | McCauley, 2005 |
| AutLD0000148 | 17q11.2 | 17 | D17S1800 | 5.82 | 4.88 | 0.000000159 | Sutcliffe, 2005 |
| AutLD0000108 | 17q11.2 | 17 | D17S1294 | - | 2.39 | - | Ylisaukko-oja, 2006 |
| AutLD0000118 | 17q11.2 | 17 | - | - | 2.1 | - | Spence, 2006 |