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Variant (rsID / SNP)

rs139197513

EFHC1

rs139197513 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EFHC1. Location: chromosome 6, position 52,317,573. 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
6:52317573
Cytoband
6p12.2
HGVS
NM_018100.4(EFHC1):c.661C>T (p.Arg221Cys)
Allele change
Missense_R221C

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.