NM_001032221.6(STXBP1):c.1454T>C (p.Ile485Thr) AND Developmental and epileptic encephalopathy, 4
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jun 26, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003322719.1
Allele description [Variation Report for NM_001032221.6(STXBP1):c.1454T>C (p.Ile485Thr)]
NM_001032221.6(STXBP1):c.1454T>C (p.Ile485Thr)
Condition(s)
Assertion and evidence details
Last Updated: Aug 26, 2023