NM_145239.3(PRRT2):c.647C>G (p.Pro216Arg) AND Infantile convulsions and choreoathetosis
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 1, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001332952.9
Allele description [Variation Report for NM_145239.3(PRRT2):c.647C>G (p.Pro216Arg)]
NM_145239.3(PRRT2):c.647C>G (p.Pro216Arg)
Condition(s)
- Name:
- Infantile convulsions and choreoathetosis (ICCA)
- Synonyms:
- Infantile convulsions and paroxysmal choreoathetosis, familial; Convulsions, infantile, with paroxysmal choreoathetosis, familial; PAROXYSMAL KINESIGENIC DYSKINESIA WITH INFANTILE CONVULSIONS
- Identifiers:
- MONDO: MONDO:0011178; MedGen: C1865926; Orphanet: 31709; OMIM: 602066
Assertion and evidence details
Last Updated: Oct 13, 2024