NM_000334.4(SCN4A):c.4679C>T (p.Pro1560Leu) AND Familial hyperkalemic periodic paralysis
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 13, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003615874.2
Allele description [Variation Report for NM_000334.4(SCN4A):c.4679C>T (p.Pro1560Leu)]
NM_000334.4(SCN4A):c.4679C>T (p.Pro1560Leu)
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
-
Mus musculus coronin 6 (Coro6), transcript variant C, mRNA
Mus musculus coronin 6 (Coro6), transcript variant C, mRNAgi|41281699|ref|NM_139129.1|Nucleotide
-
uncharacterized protein C8orf74 [Homo sapiens]
uncharacterized protein C8orf74 [Homo sapiens]gi|1519313383|ref|NP_001035121.2|Protein
-
RecName: Full=Cation channel sperm-associated protein 2; Short=CatSper2
RecName: Full=Cation channel sperm-associated protein 2; Short=CatSper2gi|156631018|sp|Q96P56.2|CTSR2_HUMAProtein
-
deoxyribonuclease gamma precursor [Rattus norvegicus]
deoxyribonuclease gamma precursor [Rattus norvegicus]gi|16758784|ref|NP_446359.1|Protein
-
GSM6176678[Accession] (3)
GEO DataSets
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Last Updated: Sep 29, 2024