NM_000069.3(CACNA1S):c.502C>T (p.Arg168Ter) AND multiple conditions
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jan 18, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002498880.1
Allele description [Variation Report for NM_000069.3(CACNA1S):c.502C>T (p.Arg168Ter)]
NM_000069.3(CACNA1S):c.502C>T (p.Arg168Ter)
Condition(s)
- Name:
- Hypokalemic periodic paralysis, type 1
- Synonyms:
- HypoPP
- Identifiers:
- MONDO: MONDO:0042979; MedGen: C3714580; Orphanet: 681; OMIM: 170400
Assertion and evidence details
Last Updated: May 1, 2024