Variant (rsID / SNP)

rs3789771

rs3789771 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EFHC1. Location: chromosome 6, position 52,360,331. Clinical significance in the table: Likely benign.

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Reference-table entries

EFHC1Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 6:52360331
Cytoband: 6p12.2
HGVS: NM_018100.4(EFHC1):c.*3192G>A
Allele change: Silent

Associated conditions / phenotypes

Juvenile myoclonic epilepsy

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.