Variant Details for COLEC12
Basic Information Top
Gene Symbol: | COLEC12 ( CLP1,NSR2,SCARA4,SRCL ) |
---|---|
Gene Full Name: | collectin sub-family member 12 |
Band: | 18p11.32 |
Quick Links | Entrez ID:81035; OMIM: 607621; Uniprot ID:COL12_HUMAN; ENSEMBL ID: ENSG00000158270; HGNC ID: 16016 |
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 | 3 | 1 | 0 | 0 | 0 | 0 | 4 |
CNVs/SVs Top
CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
---|---|---|---|---|---|---|---|---|
AutCNV0000434 | 18 | 18p11.32 | 10000 | 588199 | 578199 | loss | external link | Gregory, 2009 |
AutCNV0004160 | 18 | 18p11.32 | 368068 | 644648 | 276580 | gain | external link | Levy, 2011 |
AutCNV0004004 | 18 | 18p11.32 | 131660 | 322229 | 190569 | gain | external link | Levy, 2011 |
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 |
---|---|---|---|---|---|---|---|---|---|
18 | 321720 | C | A | PCR and MiSeq | deleterious | 0.9995 | Iossifov I, 2012 |
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 |
---|---|---|---|---|---|---|---|
No related data! |