RFX6 gene homepage

General information
Gene symbol RFX6
Gene name regulatory factor X, 6
Chromosome 6
Chromosomal band q22.31
Imprinted Unknown
Genomic reference NG_027699.1
Transcript reference NM_173560.3
Exon/intron information NM_173560.3 exon/intron table
Associated with diseases MTCHRS
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Martina Skopkova
Total number of public variants reported 28
Unique public DNA variants reported 24
Individuals with public variants 23
Hidden variants 34
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created May 03, 2013
Date last updated June 24, 2020
Version RFX6:200624

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_173560.3.
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 http://www.LOVD.nl/RFX6
HGNC 21478
Entrez Gene 222546
PubMed articles RFX6
OMIM - Gene 612659
OMIM - Diseases MTCHRS (Mitchell-Riley syndrome (MTCHRS))
GeneCards RFX6
GeneTests RFX6

Active transcripts




NCBI ID     

NCBI Protein ID     

00017676 6 regulatory factor X, 6 NM_173560.3 NP_775831.2 28

Copyright & disclaimer
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We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.