NM_000334.4(SCN4A):c.3877G>A (p.Val1293Ile) AND Hyperkalemic periodic paralysis
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Dec 31, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000654659.11
Allele description [Variation Report for NM_000334.4(SCN4A):c.3877G>A (p.Val1293Ile)]
NM_000334.4(SCN4A):c.3877G>A (p.Val1293Ile)
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
-
breast cancer anti-estrogen resistance protein 3 isoform 1 [Homo sapiens]
breast cancer anti-estrogen resistance protein 3 isoform 1 [Homo sapiens]gi|2303318055|ref|NP_001398974.1|Protein
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Last Updated: Aug 4, 2024