NM_000540.3(RYR1):c.12743C>T (p.Ala4248Val) AND RYR1-related disorder
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 15, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002020218.4
Allele description [Variation Report for NM_000540.3(RYR1):c.12743C>T (p.Ala4248Val)]
NM_000540.3(RYR1):c.12743C>T (p.Ala4248Val)
Condition(s)
- Name:
- RYR1-related disorder
- Synonyms:
- RYR1-Related Disorders; RYR1-related condition
- Identifiers:
- MedGen: CN239331
-
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Last Updated: Sep 29, 2024