Variant Details for STMN4
Basic Information Top
Gene Symbol: | STMN4 ( MGC111012,RB3 ) |
---|---|
Gene Full Name: | stathmin-like 4 |
Band: | 8p21.2 |
Quick Links | Entrez ID:81551; OMIM: NA; Uniprot ID:STMN4_HUMAN; ENSEMBL ID: ENSG00000015592; HGNC ID: 16078 |
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 | 2 | 1 | 0 | 0 | 0 | 1 | 4 |
CNVs/SVs Top
CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
---|---|---|---|---|---|---|---|---|
AutCNV0000264 | 8 | 8p21-23 | 10000 | 29644081 | 29634081 | gain | external link | Papanikolaou, 2006 |
AutCNV0000700 | 8 | 8p21 | 19055720 | 29644081 | 10588361 | loss | external link | Berkel, 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 |
---|---|---|---|---|---|---|---|---|---|
8 | 27097681 | T | C | Sanger sequencing | De Rubeis S, 2014 |
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 |
---|---|---|---|---|---|---|---|
AutLD0000131 | 8p21.2 | 8 | D8S1989 | - | - | 0.00428 | Lauritsen, 2006 |