NM_000069.3(CACNA1S):c.4032T>C (p.Tyr1344=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 4, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002495320.1
Allele description [Variation Report for NM_000069.3(CACNA1S):c.4032T>C (p.Tyr1344=)]
NM_000069.3(CACNA1S):c.4032T>C (p.Tyr1344=)
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: Sep 29, 2024