NM_000540.3(RYR1):c.2654G>A (p.Arg885His) AND Myopathy, RYR1-associated
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 5, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000662098.6
Allele description [Variation Report for NM_000540.3(RYR1):c.2654G>A (p.Arg885His)]
NM_000540.3(RYR1):c.2654G>A (p.Arg885His)
Condition(s)
- Name:
- Myopathy, RYR1-associated
- Identifiers:
- MedGen: CN221567
-
CISH cytokine inducible SH2 containing protein [Homo sapiens]
CISH cytokine inducible SH2 containing protein [Homo sapiens]Gene ID:1154Gene
-
Gene Links for GEO Profiles (Select 58878891) (1)
Gene
-
Hepatocellular carcinoma induced by choline-deficient L-amino acid-defined diet
Hepatocellular carcinoma induced by choline-deficient L-amino acid-defined dietAccession: GDS1385GEO DataSets
-
Related DataSets for GEO Profiles (Select 13471946) (1)
GEO DataSets
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Last Updated: Oct 8, 2024