Gene entry
EFHC1
EF-hand domain containing 1
- Chromosome
- 6
- Cytoband
- 6p12.2
- Variants (rsID)
- 29
EFHC1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 6 (region 6p12.2). Its official name is “EF-hand domain containing 1”. The reference table lists 29 variants (rsID) for this gene.
Clinically classified variants
19 reference-table entries with clinical significance.
- rs1266787Benignsingle nucleotide variantJuvenile myoclonic epilepsy|Typical absence seizure|Myoclonic epilepsy, juvenile, susceptibility to, 1
- rs3804505Benignsingle nucleotide variantMyoclonic epilepsy, juvenile, susceptibility to, 1|Juvenile myoclonic epilepsy|Juvenile myoclonic epilepsy|Typical absence seizure
- rs7757370Benignsingle nucleotide variantJuvenile myoclonic epilepsy
- rs115205076Conflicting interpretationssingle nucleotide variantJuvenile myoclonic epilepsy|Myoclonic epilepsy, juvenile, susceptibility to, 1|Typical absence seizure
- rs137852776Conflicting interpretationssingle nucleotide variantMyoclonic epilepsy, juvenile, susceptibility to, 1|Juvenile myoclonic epilepsy|Typical absence seizure|Epilepsy, juvenile absence, susceptibility to, 1
- rs137852777Conflicting interpretationssingle nucleotide variantMyoclonic epilepsy, juvenile, susceptibility to, 1|Juvenile myoclonic epilepsy|Myoclonic epilepsy, juvenile, susceptibility to, 1|Typical absence seizure
- rs139197513Conflicting interpretationssingle nucleotide variantMyoclonic epilepsy, juvenile, susceptibility to, 1|Typical absence seizure
- rs145194882Conflicting interpretationssingle nucleotide variantMyoclonic epilepsy, juvenile, susceptibility to, 1|Typical absence seizure
- rs149998588Conflicting interpretationssingle nucleotide variantJuvenile myoclonic epilepsy
- rs201860746Conflicting interpretationssingle nucleotide variantJuvenile myoclonic epilepsy|Myoclonic epilepsy, juvenile, susceptibility to, 1|Typical absence seizure
- rs369503191Conflicting interpretationssingle nucleotide variantJuvenile myoclonic epilepsy|Typical absence seizure|Myoclonic epilepsy, juvenile, susceptibility to, 1
- rs371151471Conflicting interpretationssingle nucleotide variantJuvenile myoclonic epilepsy|Epilepsy, juvenile absence, susceptibility to, 1|Myoclonic epilepsy, juvenile, susceptibility to, 1|Typical absence seizure
- rs372507832Conflicting interpretationssingle nucleotide variantTypical absence seizure|Myoclonic epilepsy, juvenile, susceptibility to, 1
- rs377227885Conflicting interpretationssingle nucleotide variantJuvenile myoclonic epilepsy|Myoclonic epilepsy, juvenile, susceptibility to, 1|Typical absence seizure
- rs73740379Conflicting interpretationssingle nucleotide variantJuvenile myoclonic epilepsy|Typical absence seizure|Myoclonic epilepsy, juvenile, susceptibility to, 1
- rs750899949Conflicting interpretationssingle nucleotide variantJuvenile myoclonic epilepsy
- rs773385237Conflicting interpretationssingle nucleotide variantJuvenile myoclonic epilepsy|Juvenile myoclonic epilepsy|Typical absence seizure
- rs3789771Likely benignsingle nucleotide variantJuvenile myoclonic epilepsy
- rs137852778Risk factorsingle nucleotide variantMyoclonic epilepsy, juvenile, susceptibility to, 1
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.