NM_000540.3(RYR1):c.767G>A (p.Arg256His) AND RYR1-related disorder
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 21, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000797005.6
Allele description [Variation Report for NM_000540.3(RYR1):c.767G>A (p.Arg256His)]
NM_000540.3(RYR1):c.767G>A (p.Arg256His)
Condition(s)
- Name:
- RYR1-related disorder
- Synonyms:
- RYR1-Related Disorders; RYR1-related condition
- Identifiers:
- MedGen: CN239331
-
cytochrome b, partial (mitochondrion) [Gambusia affinis]
cytochrome b, partial (mitochondrion) [Gambusia affinis]gi|2672713686|gb|WVT45182.1|Protein
-
calmodulin, partial [Penicillium sanguifluum]
calmodulin, partial [Penicillium sanguifluum]gi|372124151|gb|AEX87485.1|Protein
-
Ush2a usherin [Rattus norvegicus]
Ush2a usherin [Rattus norvegicus]Gene ID:289369Gene
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Last Updated: Sep 29, 2024