EFHC1 gene homepage

General information
Gene symbol EFHC1
Gene name EF-hand domain containing 1
Chromosome 6
Chromosomal band p12.2
Imprinted Unknown
Genomic reference NG_016760.1
Transcript reference NM_018100.3
Associated with diseases GTCSa, JME
Citation reference(s) -
Curators (1) Marina Gonsales
Total number of public variants reported 53
Unique public DNA variants reported 11
Individuals with public variants 45
Hidden variants 0
Date created February 04, 2020
Date last updated February 06, 2020
Version EFHC1:200206

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 16406
Entrez Gene 114327
PubMed articles EFHC1
OMIM - Gene 608815
OMIM - Diseases JME (Juvenile myoclonic epilepsy)

Active transcripts




NCBI ID     

NCBI Protein ID     

00000001 6 transcript variant A NM_018100.3 NP_060570.2 53

Copyright & disclaimer
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