NM_172107.4(KCNQ2):c.1749G>C (p.Lys583Asn) AND Developmental and epileptic encephalopathy, 7
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- May 13, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001420161.2
Allele description [Variation Report for NM_172107.4(KCNQ2):c.1749G>C (p.Lys583Asn)]
NM_172107.4(KCNQ2):c.1749G>C (p.Lys583Asn)
Condition(s)
Assertion and evidence details
Last Updated: Mar 5, 2024