NM_032776.3(JMJD1C):c.2162G>T (p.Gly721Val) AND Early myoclonic encephalopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 16, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001212423.6
Allele description [Variation Report for NM_032776.3(JMJD1C):c.2162G>T (p.Gly721Val)]
NM_032776.3(JMJD1C):c.2162G>T (p.Gly721Val)
Condition(s)
- Name:
- Early myoclonic encephalopathy
- Identifiers:
- MONDO: MONDO:0016022; MedGen: C0270855
Assertion and evidence details
Last Updated: Feb 28, 2024