NM_000540.3(RYR1):c.12012+13C>A AND RYR1-related disorder
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Sep 20, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002095863.8
Allele description [Variation Report for NM_000540.3(RYR1):c.12012+13C>A]
NM_000540.3(RYR1):c.12012+13C>A
Condition(s)
- Name:
- RYR1-related disorder
- Synonyms:
- RYR1-Related Disorders; RYR1-related condition
- Identifiers:
- MedGen: CN239331
-
PREDICTED: crk-like protein [Bison bison bison]
PREDICTED: crk-like protein [Bison bison bison]gi|742086219|ref|XP_010830644.1|Protein
-
telethonin [Perca flavescens]
telethonin [Perca flavescens]gi|1604784563|ref|XP_028454679.1|Protein
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Last Updated: Sep 29, 2024