NM_000540.3(RYR1):c.7855C>T (p.Leu2619=) AND Congenital multicore myopathy with external ophthalmoplegia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000325976.5
Allele description [Variation Report for NM_000540.3(RYR1):c.7855C>T (p.Leu2619=)]
NM_000540.3(RYR1):c.7855C>T (p.Leu2619=)
Condition(s)
- Name:
- Congenital multicore myopathy with external ophthalmoplegia (CMYO1B)
- Synonyms:
- MULTICORE MYOPATHY; Minicore myopathy with external ophthalmoplegia; Multicore myopathy with external ophthalmoplegia; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009712; MedGen: C1850674; Orphanet: 598; OMIM: 255320; Human Phenotype Ontology: HP:0003789
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Homologene neighbors for GEO Profiles (Select 125848138) (0)
GEO Profiles
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BioProject Links for Nucleotide (Select 1092646081) (1)
BioProject
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Taxonomy Links for Nucleotide (Select 1092646033) (1)
Taxonomy
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Last Updated: Jul 29, 2024