NM_001112741.2(KCNC1):c.1287C>A (p.Ala429=) AND Progressive myoclonic epilepsy type 7
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 24, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000553152.18
Allele description [Variation Report for NM_001112741.2(KCNC1):c.1287C>A (p.Ala429=)]
NM_001112741.2(KCNC1):c.1287C>A (p.Ala429=)
Condition(s)
Assertion and evidence details
Last Updated: Oct 20, 2024