Variant Details for LRRCC1
Basic Information Top
| Gene Symbol: | LRRCC1 ( CLERC,KIAA1764,SAP2 ) |
|---|---|
| Gene Full Name: | leucine rich repeat and coiled-coil domain containing 1 |
| Band: | 8q21.2 |
| Quick Links | Entrez ID:85444; OMIM: NA; Uniprot ID:LRCC1_HUMAN; ENSEMBL ID: ENSG00000133739; HGNC ID: 29373 |
| 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 | 1 | 3 | 0 | 0 | 0 | 0 | 4 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0004278 | 8 | 8q21.2-q21.3 | 84857767 | 88319507 | 3461740 | loss | external link | Sanders, 2011 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 8 | 86037085 | G | A | PCR or Sanger sequencing | neutral | 0.1709 | Iossifov I, 2014 | ||
| 8 | 86048097 | C | T | Sequenom | Michaelson JJ, 2012 | ||||
| 8 | 86048065 | G | A | c.2196G>A | p.Lys732Lys | Not_tested | Takata A, 2018 |
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! | |||||||