NM_000334.4(SCN4A):c.386T>C (p.Ile129Thr) AND Hyperkalemic periodic paralysis
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 21, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001302073.7
Allele description [Variation Report for NM_000334.4(SCN4A):c.386T>C (p.Ile129Thr)]
NM_000334.4(SCN4A):c.386T>C (p.Ile129Thr)
Condition(s)
- Name:
- Hyperkalemic periodic paralysis
- Synonyms:
- Gamstorp episodic adynamy; Adynamia episodica hereditaria with or without myotonia; Familial hyperkalemic periodic paralysis; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008224; MedGen: C0238357; Orphanet: 682; OMIM: 170500; Human Phenotype Ontology: HP:0007215
Assertion and evidence details
Last Updated: Apr 15, 2024