NM_000334.4(SCN4A):c.1576G>A (p.Gly526Arg) AND Familial hyperkalemic periodic paralysis
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 19, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000558352.13
Allele description [Variation Report for NM_000334.4(SCN4A):c.1576G>A (p.Gly526Arg)]
NM_000334.4(SCN4A):c.1576G>A (p.Gly526Arg)
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
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DNA-binding transcriptional activator EnvY [Escherichia coli str. K-12 substr. M...
DNA-binding transcriptional activator EnvY [Escherichia coli str. K-12 substr. MG1655]gi|16128549|gnl|REF_b0566|NP_415098 NP_415098.1|Protein
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Mus musculus castaneus isolate H18 Tdp1 gene, partial sequence
Mus musculus castaneus isolate H18 Tdp1 gene, partial sequencegi|299736724|gb|HM571511.1|Nucleotide
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Last Updated: Sep 16, 2024