NM_020988.3(GNAO1):c.751T>A (p.Phe251Ile) AND Developmental and epileptic encephalopathy, 17
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Sep 17, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002290360.2
Allele description [Variation Report for NM_020988.3(GNAO1):c.751T>A (p.Phe251Ile)]
NM_020988.3(GNAO1):c.751T>A (p.Phe251Ile)
Condition(s)
Assertion and evidence details
Last Updated: May 7, 2024