NM_000540.3(RYR1):c.1453A>G (p.Met485Val) AND Neuromuscular disease, congenital, with uniform type 1 fiber
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000276319.13
Allele description [Variation Report for NM_000540.3(RYR1):c.1453A>G (p.Met485Val)]
NM_000540.3(RYR1):c.1453A>G (p.Met485Val)
Condition(s)
- Name:
- Neuromuscular disease, congenital, with uniform type 1 fiber
- Identifiers:
- MedGen: C2674259
-
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Last Updated: Oct 8, 2024