NM_172107.4(KCNQ2):c.442G>A (p.Ala148Thr) AND KCNQ2-related disorder
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 29, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004538505.1
Allele description [Variation Report for NM_172107.4(KCNQ2):c.442G>A (p.Ala148Thr)]
NM_172107.4(KCNQ2):c.442G>A (p.Ala148Thr)
Condition(s)
- Name:
- KCNQ2-related disorder
- Synonyms:
- KCNQ2-Related Disorders; KCNQ2-related condition
- Identifiers:
- MedGen: CN169299
Assertion and evidence details
Last Updated: Oct 13, 2024