NM_000540.3(RYR1):c.14110C>T (p.Arg4704Ter) AND RYR1-related disorder
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Feb 3, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001053096.12
Allele description [Variation Report for NM_000540.3(RYR1):c.14110C>T (p.Arg4704Ter)]
NM_000540.3(RYR1):c.14110C>T (p.Arg4704Ter)
Condition(s)
- Name:
- RYR1-related disorder
- Synonyms:
- RYR1-Related Disorders; RYR1-related condition
- Identifiers:
- MedGen: CN239331
Assertion and evidence details
Last Updated: Sep 8, 2024