Identity
HGNC
LOCATION
6p12.2
LOCUSID
ALIAS
EJM1,POC9,RIB72,dJ304B14.2
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 114327
MIM: 608815
HGNC: 16406
Ensembl: ENSG00000096093
Variants:
dbSNP: 114327
ClinVar: 114327
TCGA: ENSG00000096093
COSMIC: EFHC1
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38088014 | 2024 | EFHC1 gene mutation profile of Turkish JME patients and its association with disease risk. | 0 |
| 38088014 | 2024 | EFHC1 gene mutation profile of Turkish JME patients and its association with disease risk. | 0 |
| 33969125 | 2021 | Mutational Analysis of Myoclonin1 Gene in Pakistani Juvenile Myoclonic Epilepsy Patients. | 0 |
| 33969125 | 2021 | Mutational Analysis of Myoclonin1 Gene in Pakistani Juvenile Myoclonic Epilepsy Patients. | 0 |
| 33181902 | 2020 | Revisiting the clinical impact of variants in EFHC1 in patients with different phenotypes of genetic generalized epilepsy. | 3 |
| 33181902 | 2020 | Revisiting the clinical impact of variants in EFHC1 in patients with different phenotypes of genetic generalized epilepsy. | 3 |
| 27467453 | 2017 | EFHC1 variants in juvenile myoclonic epilepsy: reanalysis according to NHGRI and ACMG guidelines for assigning disease causality. | 10 |
| 28370826 | 2017 | Microtubule-associated defects caused by EFHC1 mutations in juvenile myoclonic epilepsy. | 2 |
| 27467453 | 2017 | EFHC1 variants in juvenile myoclonic epilepsy: reanalysis according to NHGRI and ACMG guidelines for assigning disease causality. | 10 |
| 28370826 | 2017 | Microtubule-associated defects caused by EFHC1 mutations in juvenile myoclonic epilepsy. | 2 |
| 25489633 | 2015 | Pathogenic EFHC1 mutations are tolerated in healthy individuals dependent on reported ancestry. | 9 |
| 25489633 | 2015 | Pathogenic EFHC1 mutations are tolerated in healthy individuals dependent on reported ancestry. | 9 |
| 23756480 | 2013 | The quest for juvenile myoclonic epilepsy genes. | 19 |
| 23756481 | 2013 | Juvenile myoclonic epilepsy as a possible neurodevelopmental disease: role of EFHC1 or Myoclonin1. | 10 |
| 23756480 | 2013 | The quest for juvenile myoclonic epilepsy genes. | 19 |
Citation
Dessen P
EFHC1 (EF-hand domain containing 1)
Atlas Genet Cytogenet Oncol Haematol. 2008-07-01
Online version: http://atlasgeneticsoncology.org/gene/50220/efhc1
