NM_004975.4(KCNB1):c.2447C>A (p.Ser816Tyr) AND Developmental and epileptic encephalopathy, 26
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 18, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003586459.1
Allele description [Variation Report for NM_004975.4(KCNB1):c.2447C>A (p.Ser816Tyr)]
NM_004975.4(KCNB1):c.2447C>A (p.Ser816Tyr)
Condition(s)
Assertion and evidence details
Last Updated: Feb 20, 2024