NM_000540.3(RYR1):c.7299C>T (p.Leu2433=) AND RYR1-related disorder
- Germline classification:
- Likely benign (2 submissions)
- Last evaluated:
- Nov 20, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001446070.8
Allele description [Variation Report for NM_000540.3(RYR1):c.7299C>T (p.Leu2433=)]
NM_000540.3(RYR1):c.7299C>T (p.Leu2433=)
Condition(s)
- Name:
- RYR1-related disorder
- Synonyms:
- RYR1-Related Disorders; RYR1-related condition
- Identifiers:
- MedGen: CN239331
-
MULTISPECIES: glycosyltransferase family 1 protein [Enterococcus]
MULTISPECIES: glycosyltransferase family 1 protein [Enterococcus]gi|488217861|ref|WP_002289069.1|Protein
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Last Updated: Sep 29, 2024