Variant Details for MADCAM1
Basic Information Top
| Gene Symbol: | MADCAM1 ( MACAM1 ) |
|---|---|
| Gene Full Name: | mucosal vascular addressin cell adhesion molecule 1 |
| Band: | 19p13.3 |
| Quick Links | Entrez ID:8174; OMIM: 102670; Uniprot ID:MADCA_HUMAN; ENSEMBL ID: ENSG00000099866; HGNC ID: 6765 |
| 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 | 3 | 1 | 0 | 0 | 0 | 1 | 5 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0002150 | 19 | 19p13.3 | 472980 | 532066 | 59086 | gain | external link | Pinto, 2010 |
| AutCNV0002285 | 19 | 19p13.3 | 473113 | 520131 | 47018 | gain | external link | Pinto, 2010 |
| AutCNV0004824 | 22 | 22q11.21 | 18657470 | 19024306 | 366836 | gain | external link | Chen CP, 2014 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 19 | 501831 | G | C | PCR or Sanger sequencing | neutral | 0.0052 | Iossifov I, 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 |
|---|---|---|---|---|---|---|---|
| AutLD0000068 | 19p13.3 | 19 | D19S209 | - | - | 0.003 | Schellenberg, 2006 |