NM_000540.3(RYR1):c.5525T>C (p.Leu1842Pro) 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:
- RCV000331583.5
Allele description [Variation Report for NM_000540.3(RYR1):c.5525T>C (p.Leu1842Pro)]
NM_000540.3(RYR1):c.5525T>C (p.Leu1842Pro)
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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Homo sapiens coiled-coil alpha-helical rod protein 1 (CCHCR1), transcript varian...
Homo sapiens coiled-coil alpha-helical rod protein 1 (CCHCR1), transcript variant 7, mRNAgi|2030184159|ref|NM_001394644.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Jul 29, 2024