NM_000540.3(RYR1):c.5008C>T (p.Arg1670Cys) AND Central core myopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001126616.4
Allele description [Variation Report for NM_000540.3(RYR1):c.5008C>T (p.Arg1670Cys)]
NM_000540.3(RYR1):c.5008C>T (p.Arg1670Cys)
Condition(s)
- Name:
- Central core myopathy (CMYO1A)
- Synonyms:
- Central core disease; Central core disease of muscle; Muscle core disease; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007294; MedGen: C0751951; Orphanet: 597; OMIM: 117000
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Hypochaeris sessiliflora clone pHsety21 retrotransposon Ty1-copia-like reverse t...
Hypochaeris sessiliflora clone pHsety21 retrotransposon Ty1-copia-like reverse transcriptase (RT) gene, partial sequencegi|154199965|gb|EF581722.1|Nucleotide
-
Hypochaeris sessiliflora clone pHsety22 retrotransposon Ty1-copia-like reverse t...
Hypochaeris sessiliflora clone pHsety22 retrotransposon Ty1-copia-like reverse transcriptase (RT) gene, partial sequencegi|154199966|gb|EF581723.1|Nucleotide
-
Chain D, Serine/threonine-protein kinase 40
Chain D, Serine/threonine-protein kinase 40gi|1139421789|pdb|5L2Q|DProtein
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Last Updated: Sep 29, 2024