NM_001127644.2(GABRA1):c.643C>A (p.Leu215Ile) AND Developmental and epileptic encephalopathy, 19
- Germline classification:
- Likely pathogenic (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001089902.2
Allele description [Variation Report for NM_001127644.2(GABRA1):c.643C>A (p.Leu215Ile)]
NM_001127644.2(GABRA1):c.643C>A (p.Leu215Ile)
Condition(s)
Assertion and evidence details
Last Updated: Jun 23, 2024