Variant Details for FAM176A
Basic Information Top
Gene Symbol: | FAM176A ( FLJ13391,TMEM166 ) |
---|---|
Gene Full Name: | family with sequence similarity 176, member A |
Band: | 2p12 |
Quick Links | Entrez ID:84141; OMIM: NA; Uniprot ID:F176A_HUMAN; ENSEMBL ID: ENSG00000115363; HGNC ID: |
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 | 2 | 3 |
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 |
---|---|---|---|---|---|---|---|---|---|
2 | 75732065 | G | A | Sequenom | Michaelson JJ, 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 |
---|---|---|---|---|---|---|---|
AutLD0000017 | 2p12 | 2 | D2S1351 | 2.14 | - | - | Bailey, 1998 |
AutLD0000029 | 2p12 | 2 | D2S1351 | 1.6 | - | - | Monaco, 2001 |