The LRIT3 gene homepage

General information
Gene symbol LRIT3
Gene name leucine-rich repeat, immunoglobulin-like and transmembrane domains 3
Chromosome 4
Chromosomal band q25
Imprinted Unknown
Genomic reference NC_000004.11
Transcript reference NM_198506.4
Exon/intron information NM_198506.4 exon/intron table
Associated with diseases CSNB, CSNB1F
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 59
Unique public DNA variants reported 45
Individuals with public variants 24
Hidden variants -
Download all this gene's data Download all data
Notes This database is one of the ”Eye disease” gene variant databases.
Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome.
Date created February 11, 2013
Date last updated November 27, 2023
Version LRIT3:231127

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_198506.4.
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/LRIT3
HGNC 24783
Entrez Gene 345193
PubMed articles LRIT3
OMIM - Gene 615004
OMIM - Diseases CSNB1F (blindness, night, stationary, congenital, type 1F (CSNB1F))
HGMD LRIT3
GeneCards LRIT3
GeneTests LRIT3
Orphanet LRIT3


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00024000 4 leucine-rich repeat, immunoglobulin-like and transmembrane domains 3 NM_198506.4 NP_940908.3 59


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