NM_172107.4(KCNQ2):c.2064G>A (p.Lys688=) AND Early infantile epileptic encephalopathy with suppression bursts
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 1, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001428622.14
Allele description [Variation Report for NM_172107.4(KCNQ2):c.2064G>A (p.Lys688=)]
NM_172107.4(KCNQ2):c.2064G>A (p.Lys688=)
Condition(s)
-
V-type proton ATPase subunit d 1 [Homo sapiens]
V-type proton ATPase subunit d 1 [Homo sapiens]gi|19913432|ref|NP_004682.2|Protein
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Last Updated: Aug 18, 2024