NM_020988.3(GNAO1):c.736G>A (p.Glu246Lys) AND GNAO1-related developmental delay-seizures-movement disorder spectrum
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- May 10, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003996903.1
Allele description [Variation Report for NM_020988.3(GNAO1):c.736G>A (p.Glu246Lys)]
NM_020988.3(GNAO1):c.736G>A (p.Glu246Lys)
Condition(s)
- Name:
- GNAO1-related developmental delay-seizures-movement disorder spectrum
- Identifiers:
- MONDO: MONDO:0035660; MedGen: C5680303
Assertion and evidence details
Last Updated: Jun 23, 2024