Variant Details for RELN
Basic Information Top
| Gene Symbol: | RELN ( PRO1598,RL ) |
|---|---|
| Gene Full Name: | reelin |
| Band: | 7q22.1 |
| Quick Links | Entrez ID:5649; OMIM: 600514; Uniprot ID:RELN_HUMAN; ENSEMBL ID: ENSG00000189056; HGNC ID: 9957 |
| 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 | 7 | 1 | 2 | 3 | 1 | 14 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 7 | 103322603 | G | A | c.1249C>T | p.Gln417* | Sanger sequencing | Neale BM, 2012 | ||
| 7 | 103162572 | A | G | Sanger sequencing | deleterious | 0.9014 | De Rubeis S, 2014 | ||
| 7 | 103322603 | G | A | Sanger sequencing | De Rubeis S, 2014 | ||||
| 7 | 103155785 | C | T | c.7966G>A | p.Asp2656Asn | deleterious | 0.8648 | Stessman HA, 2017 | |
| 7 | 103163929 | G | A | c.7399C>T | p.Gln2467Ter | Stessman HA, 2017 | |||
| 7 | 103207069 | G | A | c.4726C>T | p.Arg1576Ter | Stessman HA, 2017 | |||
| 7 | 103194122 | G | T | p.S1985Y | Sanger sequencing | Yuen RK, 2015 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| 7 | 103130237 | C | T | Mosaic | Krupp DR, 2017 |
NGS Other Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 7 | 103234202 | C | T | Y | Cukier HN, 2014 | ||||
| Y1183C | Y | Alvarez-Mora MI, 2016 |
Low-Scale Gene Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| Fatemi, 2001 | |||||||||
| Bonora, 2003 | |||||||||
| Persico, 2006 |
Linkage Regions Top| Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
|---|---|---|---|---|---|---|---|
| AutLD0000031 | 7q22.1 | 7 | D7S477 | 3.2 | - | - | Monaco, 2001 |