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
-
Homo sapiens neuregulin 3 (NRG3), transcript variant 9, non-coding RNA
Homo sapiens neuregulin 3 (NRG3), transcript variant 9, non-coding RNAgi|1624763245|ref|NR_163253.1|Nucleotide
-
rufous plicatoides (95)
ClinVar
-
Rubus scioanus (133958)
Nucleotide
-
MIMAG Metagenome-assembled Genome sample from Acidobacteriota bacterium
MIMAG Metagenome-assembled Genome sample from Acidobacteriota bacteriumbiosample
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024