NM_172107.4(KCNQ2):c.1375C>T (p.Gln459Ter) AND Early infantile epileptic encephalopathy with suppression bursts
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Dec 7, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001949474.4
Allele description [Variation Report for NM_172107.4(KCNQ2):c.1375C>T (p.Gln459Ter)]
NM_172107.4(KCNQ2):c.1375C>T (p.Gln459Ter)
Condition(s)
-
Mus musculus hemoglobin X, alpha-like embryonic chain in Hba complex (Hba-x), mR...
Mus musculus hemoglobin X, alpha-like embryonic chain in Hba complex (Hba-x), mRNAgi|6754161|ref|NM_010405.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Feb 28, 2024