EFHC2 gene homepage

General information
Gene symbol EFHC2
Gene name EF-hand domain (C-terminal) containing 2
Chromosome X
Chromosomal band p11
Imprinted Unknown
Genomic reference NG_021391.1
Transcript reference NM_025184.3
Exon/intron information NM_025184.3 exon/intron table
Associated with diseases -
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 31
Unique public DNA variants reported 19
Individuals with public variants 41
Hidden variants 0
Notes The work leading to the establishment of these LSDBs was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement nÂș 200754 - the GEN2PHEN project.
Date created March 06, 2009
Date last updated July 30, 2018
Version EFHC2:180730

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_025184.3.
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 http://www.LOVD.nl/EFHC2
External URL Orphanet
HGNC 26233
Entrez Gene 80258
PubMed articles EFHC2
OMIM - Gene 300817
HGMD EFHC2
GeneCards EFHC2
GeneTests EFHC2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000432 X EF-hand domain (C-terminal) containing 2 NM_025184.3 NP_079460.2 31


Copyright & disclaimer
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We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.