The NHS gene homepage

General information
Gene symbol NHS
Gene name Nance-Horan syndrome (congenital cataracts and dental anomalies)
Chromosome X
Chromosomal band p22.3-p21.1
Imprinted Unknown
Genomic reference NG_011553.2
Transcript reference NM_198270.2
Exon/intron information NM_198270.2 exon/intron table
Associated with diseases CTRCT-40, ID, NHS
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 140
Unique public DNA variants reported 107
Individuals with public variants 57
Hidden variants 20
Download all this gene's data Download all data
Notes This gene sequence variant database has been initiated based on the data reported by Tarpey et al. (2009) A systematic, large-scale resequencing screen of the X-chromosome coding exons in mental retardation. Nat.Genet. 41: 535-543. Establishment of the database was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created March 06, 2009
Date last updated October 12, 2021
Version NHS:211012

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_198270.2.
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/NHS
HGNC 7820
Entrez Gene 4810
PubMed articles NHS
OMIM - Gene 300457
OMIM - Diseases CTRCT-40 (cataract, type 40 (CTRCT-40))
NHS (syndrome, Nance-Horan (NHS))
HGMD NHS
GeneCards NHS
GeneTests NHS
Orphanet NHS


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000295 X transcript variant 1 NM_198270.2 NP_938011.1 140


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