NM_000334.4(SCN4A):c.3788C>T (p.Pro1263Leu) AND Hyperkalemic periodic paralysis
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 29, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001955590.5
Allele description [Variation Report for NM_000334.4(SCN4A):c.3788C>T (p.Pro1263Leu)]
NM_000334.4(SCN4A):c.3788C>T (p.Pro1263Leu)
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
-
Gene Links for GEO Profiles (Select 22849080) (1)
Gene
-
UBE2L6 ubiquitin conjugating enzyme E2 L6 [Homo sapiens]
UBE2L6 ubiquitin conjugating enzyme E2 L6 [Homo sapiens]Gene ID:9246Gene
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Last Updated: May 12, 2024