NM_000540.3(RYR1):c.5438G>T (p.Arg1813Met) AND Central core myopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000395351.5
Allele description [Variation Report for NM_000540.3(RYR1):c.5438G>T (p.Arg1813Met)]
NM_000540.3(RYR1):c.5438G>T (p.Arg1813Met)
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
-
MAG: hypothetical protein A2916_04430 [Candidatus Yanofskybacteria bacterium RIF...
MAG: hypothetical protein A2916_04430 [Candidatus Yanofskybacteria bacterium RIFCSPLOWO2_01_FULL_41_67]gi|1084458559|gb|OGN24835.1||gnl|WG H|A2916_04430Protein
-
MAG: 50S ribosomal protein L10 [Candidatus Yanofskybacteria bacterium RIFCSPLOWO...
MAG: 50S ribosomal protein L10 [Candidatus Yanofskybacteria bacterium RIFCSPLOWO2_01_FULL_41_67]gi|1084458560|gb|OGN24836.1||gnl|WG H|A2916_04435Protein
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See more...Assertion and evidence details
Last Updated: Sep 16, 2024