LOVD POLR1D homepage

General information
Gene name polymerase (RNA) I polypeptide D, 16kDa
Gene symbol POLR1D
Chromosome Location 13q12.2
Database location grenada.lumc.nl
Curator Hans Dauwerse
PubMed references View all (unique) PubMed references in the POLR1D database
Date of creation June 28, 2010
Last update December 08, 2010
Version POLR1D101208
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Total number of unique DNA variants reported 17
Total number of individuals with variant(s) 20
Total number of variants reported 20
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Graphical displays and utilities
Summary tables Summary of all sequence variants in the POLR1D database, sorted by type of variant (with graphical displays and statistics)
UCSC Genome Browser Show variants in the UCSC Genome Browser (compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Sequence variant tables
Unique sequence variants Listing of all unique sequence variants in the POLR1D database, without patient data
Complete sequence variant listing Listing of all sequence variants in the POLR1D database
Variants with no known pathogenicity Listing of all POLR1D 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 20422
Entrez Gene 51082
OMIM - Gene 613715
UniProtKB (SwissProt/TrEMBL) Q9Y2S0
External link Orphanet