Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs115205076

EFHC1

rs115205076 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EFHC1. Location: chromosome 6, position 52,319,056. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

EFHC1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
6:52319056
Cytoband
6p12.2
HGVS
NM_018100.4(EFHC1):c.887G>A (p.Arg296His)
Allele change
Missense_R296H

Associated conditions / phenotypes

Juvenile myoclonic epilepsy|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.