The CACNA1F gene homepage

This database is one of the "Eye disease" gene variant databases.
General information
Gene symbol CACNA1F
Gene name calcium channel, voltage-dependent, L type, alpha 1F subunit
Chromosome X
Chromosomal band p11.23
Imprinted Unknown
Genomic reference NG_009095.2
Transcript reference NM_001256789.1, NM_005183.2
Exon/intron information NM_005183.2 exon/intron table
Associated with diseases AIED, CORDX3, CSNB2A
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 867
Unique public DNA variants reported 499
Individuals with public variants 846
Hidden variants 20
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 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 February 26, 2024
Version CACNA1F:240226

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_005183.2.
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/CACNA1F
HGNC 1393
Entrez Gene 778
PubMed articles CACNA1F
OMIM - Gene 300110
OMIM - Diseases AIED (Aland Island eye disease (AIED))
CORDX3 (dystrophy, cone-rod, X-linked, type 3 (CORDX-3))
CSNB2A (blindness, night, stationary, congenital, type 2A (CSNB-2A))
HGMD CACNA1F
GeneCards CACNA1F
GeneTests CACNA1F
Orphanet CACNA1F


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000427 X calcium channel, voltage-dependent, L type, alpha 1F subunit NM_005183.2 NP_005174.2 867
00025624 X transcript variant 2 NM_001256789.1 NP_001243718.1 354


Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized use, copying, storage, or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2009-2024. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

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