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Variant (rsID / SNP)

rs3804505

EFHC1

rs3804505 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EFHC1. Location: chromosome 6, position 52,303,361. Clinical significance in the table: Benign.

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Reference-table entries

EFHC1Benign
Clinical significance (as recorded)
Benign
Variant type
single nucleotide variant
Chromosome / position
6:52303361
Cytoband
6p12.2
HGVS
NM_018100.4(EFHC1):c.545G>A (p.Arg182His)
Allele change
Missense_R182H

Associated conditions / phenotypes

Myoclonic epilepsy, juvenile, susceptibility to, 1|Juvenile myoclonic epilepsy|Juvenile myoclonic epilepsy|Typical absence seizure

Public references

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