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Variant (rsID / SNP)

rs145194882

EFHC1

rs145194882 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EFHC1. Location: chromosome 6, position 52,354,972. 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
6:52354972
Cytoband
6p12.2
HGVS
NM_018100.4(EFHC1):c.1675T>C (p.Leu559=)
Allele change
Synonymous_L559L

Associated conditions / phenotypes

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

Public references

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