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Variant (rsID / SNP)

rs372507832

EFHC1

rs372507832 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EFHC1. Location: chromosome 6, position 52,357,062. 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
6:52357062
Cytoband
6p12.2
HGVS
NM_018100.4(EFHC1):c.1852-6C>G
Allele change
Silent

Associated conditions / phenotypes

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.