EFHC1 EF-hand domain containing 1
Gene ID: 114327, updated on 2-Nov-2024Gene type: protein coding
Also known as: EJM1; POC9; RIB72; dJ304B14.2
- See all available tests in GTR for this gene
- Go to complete Gene record for EFHC1
- Go to Variation Viewer for EFHC1 variants
Summary
This gene encodes an EF-hand-containing calcium binding protein. The encoded protein likely plays a role in calcium homeostasis. Mutations in this gene have been associated with susceptibility to juvenile myoclonic epilepsy and juvenile absence epilepsy. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Epilepsy, juvenile absence, susceptibility to, 1 | not available |
| Myoclonic epilepsy, juvenile, susceptibility to, 1 | not available |
Genomic context
- Location:
- 6p12.2
- Sequence:
- Chromosome: 6; NC_000006.12 (52420342..52497198)
- Total number of exons:
- 12
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for EFHC1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- EFHC1 database
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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