Variant Details for S100A11
Basic Information Top
Gene Symbol: | S100A11 ( MLN70,S100C ) |
---|---|
Gene Full Name: | S100 calcium binding protein A11 |
Band: | 1q21.3 |
Quick Links | Entrez ID:6282; OMIM: 603114; Uniprot ID:S10AB_HUMAN; ENSEMBL ID: ENSG00000163191; HGNC ID: 10488 |
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 | 2 | 0 | 0 | 0 | 1 | 4 |
CNVs/SVs Top
CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
---|---|---|---|---|---|---|---|---|
AutCNV0000349 | 1 | 1q21.3 | 151333376 | 155033376 | 3700000 | external link | Zwaag, 2009 |
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 |
---|---|---|---|---|---|---|---|---|---|
1 | 152012714 | G | A | Sanger sequencing | Yuen RK, 2016 | ||||
1 | 152012715 | C | T | Sanger sequencing | Yuen RK, 2016 |
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 |
---|---|---|---|---|---|---|---|
AutLD0000040 | 1q21.3 | 1 | D1S498 | 2.32 | - | - | Auranen, 2002 |