Variant Details for NCOA3
Basic Information Top
Gene Symbol: | NCOA3 ( ACTR,AIB-1,AIB1,CAGH16,CTG26,KAT13B,MGC141848,RAC3,SRC-3,SRC3,TNRC14,TNRC16,TRAM-1,bHLHe42,pCIP ) |
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Gene Full Name: | nuclear receptor coactivator 3 |
Band: | 20q13.12 |
Quick Links | Entrez ID:8202; OMIM: 601937; Uniprot ID:NCOA3_HUMAN; ENSEMBL ID: ENSG00000124151; HGNC ID: 7670 |
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 | 0 | 1 | 0 | 0 | 0 | 1 | 2 |
CNVs/SVs Top
CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
---|---|---|---|---|---|---|---|---|
No related data! |
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 |
---|---|---|---|---|---|---|---|---|---|
20 | 46165011 | 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 |
---|---|---|---|---|---|---|---|
AutLD0000147 | 20q11.21-13.12 | 20 | - | - | 5.56 | - | Allen-Brady, 2008 |