EFHC1 Chromosome 6

EF-hand domain containing 1
32 variants 32 Health Risk

Upload your DNA to see your personal genotypes for variants in EFHC1.

What This Gene Does
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]
Gene Info
Gene Group
EF-hand domain containing
Locus Type
gene with protein product
Location
6p12.2
Ensembl
ENSG00000096093
Associated Conditions (16)
Juvenile myoclonic epilepsy
Absence seizure
Myoclonic epilepsy
juvenile
susceptibility to
1
EFHC1-related disorder
Epilepsy
idiopathic generalized
7
Gastric cancer
Familial cancer of breast
Hepatocellular carcinoma
juvenile absence
Uterine corpus endometrial carcinoma
Seizure
Key Variants
RS1581829739
association
Juvenile myoclonic epilepsy, Juvenile myoclonic epilepsy
Health Risk
RS115475262
Conflicting classifications of pathogenicity
Absence seizure, Myoclonic epilepsy, juvenile
Health Risk
RS1303813611
Conflicting classifications of pathogenicity
Absence seizure, Myoclonic epilepsy, juvenile
Health Risk
RS1339961633
Conflicting classifications of pathogenicity
Myoclonic epilepsy, juvenile, susceptibility to
Health Risk
RS137852776
Conflicting classifications of pathogenicity
Myoclonic epilepsy, juvenile, susceptibility to
Health Risk
RS139197513
Conflicting classifications of pathogenicity
EFHC1-related disorder, Myoclonic epilepsy, juvenile
Health Risk
RS140429638
Conflicting classifications of pathogenicity
Absence seizure, Myoclonic epilepsy, juvenile
Health Risk
RS140476054
Conflicting classifications of pathogenicity
Epilepsy, idiopathic generalized, susceptibility to
Health Risk
RS142458862
Conflicting classifications of pathogenicity
Absence seizure, Myoclonic epilepsy, juvenile
Health Risk
RS145194882
Conflicting classifications of pathogenicity
Absence seizure, Myoclonic epilepsy, juvenile
Health Risk
RS145754721
Conflicting classifications of pathogenicity
EFHC1-related disorder, Absence seizure, Myoclonic epilepsy
Health Risk
RS149998588
Conflicting classifications of pathogenicity
Juvenile myoclonic epilepsy, Juvenile myoclonic epilepsy
Health Risk
All Variants (32)
RSID Category Clinical Significance Conditions
RS1581829739 Health Risk association Juvenile myoclonic epilepsy, Juvenile myoclonic epilepsy
RS115475262 Health Risk Conflicting classifications of pathogenicity Absence seizure, Myoclonic epilepsy, juvenile
RS1303813611 Health Risk Conflicting classifications of pathogenicity Absence seizure, Myoclonic epilepsy, juvenile
RS1339961633 Health Risk Conflicting classifications of pathogenicity Myoclonic epilepsy, juvenile, susceptibility to
RS137852776 Health Risk Conflicting classifications of pathogenicity Myoclonic epilepsy, juvenile, susceptibility to
RS139197513 Health Risk Conflicting classifications of pathogenicity EFHC1-related disorder, Myoclonic epilepsy, juvenile
RS140429638 Health Risk Conflicting classifications of pathogenicity Absence seizure, Myoclonic epilepsy, juvenile
RS140476054 Health Risk Conflicting classifications of pathogenicity Epilepsy, idiopathic generalized, susceptibility to
RS142458862 Health Risk Conflicting classifications of pathogenicity Absence seizure, Myoclonic epilepsy, juvenile
RS145194882 Health Risk Conflicting classifications of pathogenicity Absence seizure, Myoclonic epilepsy, juvenile
RS145754721 Health Risk Conflicting classifications of pathogenicity EFHC1-related disorder, Absence seizure, Myoclonic epilepsy
RS149998588 Health Risk Conflicting classifications of pathogenicity Juvenile myoclonic epilepsy, Juvenile myoclonic epilepsy
RS200116252 Health Risk Conflicting classifications of pathogenicity Absence seizure, Juvenile myoclonic epilepsy, Myoclonic epilepsy
RS200191497 Health Risk Conflicting classifications of pathogenicity Myoclonic epilepsy, juvenile, susceptibility to
RS200435907 Health Risk Conflicting classifications of pathogenicity Absence seizure, Myoclonic epilepsy, juvenile
RS200510672 Health Risk Conflicting classifications of pathogenicity Absence seizure, Myoclonic epilepsy, juvenile
RS369503191 Health Risk Conflicting classifications of pathogenicity Absence seizure, Myoclonic epilepsy, juvenile
RS371151471 Health Risk Conflicting classifications of pathogenicity Absence seizure, Juvenile myoclonic epilepsy, Myoclonic epilepsy
RS372507832 Health Risk Conflicting classifications of pathogenicity Absence seizure, Myoclonic epilepsy, juvenile
RS374661645 Health Risk Conflicting classifications of pathogenicity Absence seizure, Juvenile myoclonic epilepsy, Myoclonic epilepsy
RS377227885 Health Risk Conflicting classifications of pathogenicity Absence seizure, Myoclonic epilepsy, juvenile
RS377732929 Health Risk Conflicting classifications of pathogenicity Absence seizure, EFHC1-related disorder, Myoclonic epilepsy
RS527295360 Health Risk Conflicting classifications of pathogenicity Seizure, Myoclonic epilepsy, juvenile
RS543750772 Health Risk Conflicting classifications of pathogenicity Absence seizure, Myoclonic epilepsy, juvenile
RS750899949 Health Risk Conflicting classifications of pathogenicity —
RS766444850 Health Risk Conflicting classifications of pathogenicity Absence seizure, Myoclonic epilepsy, juvenile
RS769591944 Health Risk Conflicting classifications of pathogenicity Myoclonic epilepsy, juvenile, susceptibility to
RS796052421 Health Risk Pathogenic —
RS137852778 Health Risk risk factor Myoclonic epilepsy, juvenile, susceptibility to
RS137852779 Health Risk risk factor Absence seizure, Absence seizure
RS137852780 Health Risk risk factor Absence seizure, Absence seizure
RS137852781 Health Risk risk factor Myoclonic epilepsy, juvenile, susceptibility to
Sign Up to Analyze Your DNA Log In