NM_000540.3(RYR1):c.7876C>T (p.Leu2626=) AND Congenital multicore myopathy with external ophthalmoplegia
- 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:
- RCV001125806.4
Allele description [Variation Report for NM_000540.3(RYR1):c.7876C>T (p.Leu2626=)]
NM_000540.3(RYR1):c.7876C>T (p.Leu2626=)
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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E3 ubiquitin-protein ligase SH3RF2 [Vulpes lagopus]
E3 ubiquitin-protein ligase SH3RF2 [Vulpes lagopus]gi|2044204970|ref|XP_041622449.1|Protein
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Uncultured Escherichia sp. clone 130 16S ribosomal RNA gene, partial sequence
Uncultured Escherichia sp. clone 130 16S ribosomal RNA gene, partial sequencegi|1043111112|gb|KX133557.1|Nucleotide
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Uncultured Alloprevotella sp. clone 136 16S ribosomal RNA gene, partial sequence
Uncultured Alloprevotella sp. clone 136 16S ribosomal RNA gene, partial sequencegi|1043111118|gb|KX133563.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 8, 2024