NM_020822.3(KCNT1):c.1283G>A (p.Arg428Gln) AND Developmental and epileptic encephalopathy, 14
- Germline classification:
- Pathogenic (6 submissions)
- Last evaluated:
- May 20, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000032793.18
Allele description [Variation Report for NM_020822.3(KCNT1):c.1283G>A (p.Arg428Gln)]
NM_020822.3(KCNT1):c.1283G>A (p.Arg428Gln)
Condition(s)
-
Chain B, Cell death protein 4
Chain B, Cell death protein 4gi|295321901|pdb|3LQQ|BProtein
-
CSaids binding protein [Homo sapiens]
CSaids binding protein [Homo sapiens]gi|603919|gb|AAA57456.1|Protein
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Last Updated: Oct 20, 2024