Variant Details for LCN10
Basic Information Top
Gene Symbol: | LCN10 ( - ) |
---|---|
Gene Full Name: | lipocalin 10 |
Band: | 9q34.3 |
Quick Links | Entrez ID:414332; OMIM: 612904; Uniprot ID:LCN10_HUMAN; ENSEMBL ID: ENSG00000187922; HGNC ID: 20892 |
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 | 5 | 1 | 0 | 0 | 0 | 3 | 9 |
CNVs/SVs Top
CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
---|---|---|---|---|---|---|---|---|
AutCNV0000550 | 9 | 9q34.13-34.3 | 134558770 | 141153431 | 6594661 | loss | external link | Gregory, 2009 |
AutCNV0002741 | 9 | 9q34.3 | 139368953 | 139756477 | 387524 | gain | external link | Pinto, 2010 |
AutCNV0002271 | 9 | 9q34.3 | 139368953 | 140418677 | 1049724 | gain | external link | Pinto, 2010 |
AutCNV0001423 | 9 | 9q34.3 | 139385438 | 140216247 | 830809 | gain | external link | Pinto, 2010 |
AutCNV0001422 | 9 | 9q34.3 | 139098175 | 140214243 | 1116068 | gain | external link | Pinto, 2010 |
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 |
---|---|---|---|---|---|---|---|---|---|
9 | 139636334 | G | A | c.256C>T | p.Arg86Trp | Sanger sequencing | neutral | 0.0787 | Sanders SJ, 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 |
---|---|---|---|---|---|---|---|
AutLD0000033 | 9q34.3 | 9 | D9S1826 | 1.46 | - | - | Monaco, 2001 |
AutLD0000075 | 9q34.3 | 9 | D9S158 | 1.66 | - | - | Buxbaum, 2001 |
AutLD0000079 | 9q34.3 | 9 | D9S158/D9S905 | 1.67 | - | - | Lamb, 2005 |