NM_015488.5(PNKD):c.*902T>C AND Paroxysmal nonkinesigenic dyskinesia 1
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000294417.5
Allele description [Variation Report for NM_015488.5(PNKD):c.*902T>C]
NM_015488.5(PNKD):c.*902T>C
Condition(s)
- Name:
- Paroxysmal nonkinesigenic dyskinesia 1 (PNKD1)
- Synonyms:
- Dystonia 8; Paroxysmal dystonic choreoathetosis; Nonkinesigenic choreoathetosis; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0700089; MedGen: C4551506; Orphanet: 98810; OMIM: 118800
Assertion and evidence details
Last Updated: Dec 24, 2023