View CLCN7 gene homepage

General information
Gene symbol CLCN7
Gene name chloride channel, voltage-sensitive 7
Chromosome 16
Chromosomal band p13
Imprinted Unknown
Genomic reference NG_007567.1
Transcript reference NM_001287.5
Associated with diseases OPTA-2, OPTB-4
Citation reference(s) -
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 0
Unique public DNA variants reported 0
Individuals with public variants 0
Hidden variants 0
Date created May 03, 2013

Links to other resources
HGNC 2025
Entrez Gene 1186
PubMed articles CLCN7
OMIM - Gene 602727
OMIM - Diseases OPTA-2 (osteopetrosis, autosomal dominant, type 2 (OPTA-2))
OPTB-4 (osteopetrosis, autosomal recessive, type 4 (OPTB-4))


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00005236 16 transcript variant 1 NM_001287.5 NP_001278.1 0