NM_000334.4(SCN4A):c.3890A>G (p.Asn1297Ser) AND Familial hyperkalemic periodic paralysis
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 11, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003615633.2
Allele description [Variation Report for NM_000334.4(SCN4A):c.3890A>G (p.Asn1297Ser)]
NM_000334.4(SCN4A):c.3890A>G (p.Asn1297Ser)
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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immunoglobulin variable region, partial [Mus musculus domesticus]
immunoglobulin variable region, partial [Mus musculus domesticus]gi|288734|emb|CAA80006.1|Protein
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Capra hircus heat shock protein 70 gene, partial cds.
Capra hircus heat shock protein 70 gene, partial cds.PopSet: 2563900311PopSet
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Capra hircus POU domain transcription factor 1 (POU1F1) gene, exon 3 and partial...
Capra hircus POU domain transcription factor 1 (POU1F1) gene, exon 3 and partial cds.PopSet: 2510043481PopSet
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024