The NHLRC1 gene homepage

General information
Gene symbol NHLRC1
Gene name NHL repeat containing 1
Chromosome 6
Chromosomal band p22.3
Imprinted Unknown
Genomic reference NG_016750.1
Transcript reference NM_198586.2
Associated with diseases epilepsy, myoclonic, of Lafora
Citation reference(s) -
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 87
Unique public DNA variants reported 20
Individuals with public variants 164
Hidden variants 0
Notes The establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement nÂș 200754 - the GEN2PHEN project.
Date created April 05, 2011
Date last updated June 30, 2021
Version NHLRC1:210630

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
HGNC 21576
OMIM - Gene 608072
OMIM - Diseases epilepsy, myoclonic, of Lafora
HGMD NHLRC1
GeneCards NHLRC1
Orphanet NHLRC1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000102 6 NHL repeat containing 1 NM_198586.2 NP_940988.2 87


Copyright & disclaimer
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