CA5B gene homepage

General information
Gene symbol CA5B
Gene name carbonic anhydrase VB, mitochondrial
Chromosome X
Chromosomal band p22.1
Imprinted Unknown
Genomic reference NG_012766.1
Transcript reference NM_007220.3
Associated with diseases -
Citation reference(s) -
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 34
Unique public DNA variants reported 20
Individuals with public variants 69
Hidden variants 0
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 July 30, 2018
Version CA5B:180730

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 1378
Entrez Gene 11238
PubMed articles CA5B
OMIM - Gene 300230
HGMD CA5B
GeneCards CA5B
GeneTests CA5B


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000581 X carbonic anhydrase VB, mitochondrial NM_007220.3 NP_009151.1 34


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