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Variant (rsID / SNP)

rs369503191

EFHC1

rs369503191 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EFHC1. Location: chromosome 6, position 52,355,109. 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
6:52355109
Cytoband
6p12.2
HGVS
NM_018100.4(EFHC1):c.1812A>C (p.Glu604Asp)
Allele change
Missense_E604D

Associated conditions / phenotypes

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

Public references

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