View EFHD1 gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol EFHD1
Gene name EF-hand domain family, member D1
Chromosome 2
Chromosomal band q37.1
Imprinted Unknown
Genomic reference NC_000002.11
Transcript reference NM_001243252.1, NM_025202.3
Associated with diseases -
Citation reference(s) -
Curators (0) -
Total number of public variants reported 0
Unique public DNA variants reported 0
Individuals with public variants 0
Hidden variants 0
Notes MSeqDR-LSDB
Date created November 15, 2013

Links to other resources
HGNC 29556
Entrez Gene 80303
PubMed articles EFHD1
OMIM - Gene 611617
HGMD EFHD1
GeneCards EFHD1
GeneTests EFHD1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00001865 2 transcript variant 2 NM_001243252.1 NP_001230181.1 0
00001866 2 transcript variant 1 NM_025202.3 NP_079478.1 0


Copyright & disclaimer
; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium