NM_000069.3(CACNA1S):c.1728G>A (p.Leu576=) AND Malignant hyperthermia, susceptibility to, 5
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 26, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004005962.2
Allele description [Variation Report for NM_000069.3(CACNA1S):c.1728G>A (p.Leu576=)]
NM_000069.3(CACNA1S):c.1728G>A (p.Leu576=)
Condition(s)
-
vitamin K epoxide reductase complex subunit 1 isoform 1 [Homo sapiens]
vitamin K epoxide reductase complex subunit 1 isoform 1 [Homo sapiens]gi|13124770|ref|NP_076869.1|Protein
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Last Updated: Sep 29, 2024