NM_000540.3(RYR1):c.4999C>T (p.Arg1667Cys) AND Congenital multicore myopathy with external ophthalmoplegia
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 5, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000332661.6
Allele description [Variation Report for NM_000540.3(RYR1):c.4999C>T (p.Arg1667Cys)]
NM_000540.3(RYR1):c.4999C>T (p.Arg1667Cys)
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
-
AGENCOURT_103328260 NICHD_XGC_tropInt_60 Xenopus tropicalis cDNA clone IMAGE:895...
AGENCOURT_103328260 NICHD_XGC_tropInt_60 Xenopus tropicalis cDNA clone IMAGE:8951300 5', mRNA sequencegi|126528893|gnl|dbEST|45046894|gb| 618.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 8, 2024