The POLR1C gene homepage

General information
Gene symbol POLR1C
Gene name polymerase (RNA) I polypeptide C, 30kDa
Chromosome 6
Chromosomal band p21.1
Imprinted Unknown
Genomic reference NG_028283.4
Transcript reference NM_203290.2
Associated with diseases HLD11, ID, TCS, TCS3
Citation reference(s) -
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 57
Unique public DNA variants reported 45
Individuals with public variants 28
Hidden variants 4
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome.
Date created May 03, 2013
Date last updated February 26, 2024
Version POLR1C:240226

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL https://www.LOVD.nl/POLR1C
HGNC 20194
Entrez Gene 9533
PubMed articles POLR1C
OMIM - Gene 610060
OMIM - Diseases HLD11 (leukodystrophy, hypomyelinating, type 11 (HLD-11))
TCS3 (Treacher Collins syndrome, type 3 (TCS-3))
HGMD POLR1C
GeneCards POLR1C
GeneTests POLR1C
Orphanet POLR1C


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00016498 6 polymerase (RNA) I polypeptide C, 30kDa NM_203290.2 NP_976035.1 57


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