NM_172107.4(KCNQ2):c.2361C>T (p.Ser787=) AND Early infantile epileptic encephalopathy with suppression bursts
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 8, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003589705.1
Allele description [Variation Report for NM_172107.4(KCNQ2):c.2361C>T (p.Ser787=)]
NM_172107.4(KCNQ2):c.2361C>T (p.Ser787=)
Condition(s)
-
Chain A, SULFUR OXIDATION PROTEIN SOXB
Chain A, SULFUR OXIDATION PROTEIN SOXBgi|240104270|pdb|2WDE|AProtein
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Last Updated: Feb 20, 2024