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Variant (rsID / SNP)

rs137852776

EFHC1

rs137852776 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EFHC1. Location: chromosome 6, position 52,317,597. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

EFHC1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
6:52317597
Cytoband
6p12.2
HGVS
NM_018100.4(EFHC1):c.685T>C (p.Phe229Leu)
Allele change
Missense_F229L

Associated conditions / phenotypes

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

Public references

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