Variant Details for SMCHD1
Basic Information Top
| Gene Symbol: | SMCHD1 ( DKFZp686O0631,KIAA0650 ) |
|---|---|
| Gene Full Name: | structural maintenance of chromosomes flexible hinge domain containing 1 |
| Band: | 18p11.32 |
| Quick Links | Entrez ID:23347; OMIM: NA; Uniprot ID:SMHD1_HUMAN; ENSEMBL ID: ENSG00000101596; HGNC ID: 29090 |
| Relate to Another Database: | SFARIGene; denovo-db |
Variant Statistic TopClick 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 | 4 | 0 | 0 | 0 | 0 | 4 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| No related data! | ||||||||
NGS de novo Mutations TopiFish (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 |
|---|---|---|---|---|---|---|---|---|---|
| 18 | 2743776 | A | G | c.3651A>G | p.Ile1217Met | Sanger sequencing | neutral | 0.0848 | Neale BM, 2012 |
| 18 | 2666192 | A | G | Sanger sequencing | neutral | 0.2896 | De Rubeis S, 2014 | ||
| 18 | 2743776 | A | G | Sanger sequencing | neutral | 0.0848 | De Rubeis S, 2014 | ||
| 18 | 2667020 | A | G | Chen R, 2017 |
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 |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||