LOVD MITF homepage

General information
Gene name microphthalmia-associated transcription factor
Gene symbol MITF
Chromosome Location 3p14.1-p12.3
Database location grenada.lumc.nl
Curator Veronique Pingault
PubMed references View all (unique) PubMed references in the MITF database
Date of creation September 17, 2009
Last update December 31, 2013
Version MITF131231
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Total number of unique DNA variants reported 41
Total number of individuals with variant(s) 58
Total number of variants reported 56
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Graphical displays and utilities
Summary tables Summary of all sequence variants in the MITF database, sorted by type of variant (with graphical displays and statistics)

Sequence variant tables
Unique sequence variants Listing of all unique sequence variants in the MITF database, without patient data
Complete sequence variant listing Listing of all sequence variants in the MITF database
Variants with no known pathogenicity Listing of all MITF variants reported to have no noticeable phenotypic effect (note: excluding variants of unknown effect)

Search the database
By type of variant View all sequence variants of a certain type
Simple search Query the database by selecting the most important variables (exon number, type of variant, disease phenotype)
Advanced search Query the database by selecting a combination of variables
Based on patient origin View all variants based on your patient origin search terms

Links to other resources
HGNC 7105
Entrez Gene 4286
OMIM - Gene 156845
UniProtKB (SwissProt/TrEMBL) O75030
GeneCards MITF
External link Orphanet

Copyright & disclaimer
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