NM_000334.4(SCN4A):c.1698G>T (p.Lys566Asn) AND Familial hyperkalemic periodic paralysis
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 16, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001299240.8
Allele description [Variation Report for NM_000334.4(SCN4A):c.1698G>T (p.Lys566Asn)]
NM_000334.4(SCN4A):c.1698G>T (p.Lys566Asn)
Condition(s)
- Name:
- Familial hyperkalemic periodic paralysis
- Synonyms:
- Hyperkalemic periodic paralysis; Gamstorp episodic adynamy; Gamstorp disease
- Identifiers:
- MONDO: MONDO:0008224; MedGen: C0238357; Orphanet: 682; OMIM: 170500; Human Phenotype Ontology: HP:0007215
-
ECI1 [Myotis davidii]
ECI1 [Myotis davidii]Gene ID:102755746Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024