NM_000540.3(RYR1):c.14581C>T (p.Arg4861Cys) AND Central core myopathy
- Germline classification:
- Pathogenic/Likely pathogenic (4 submissions)
- Last evaluated:
- Jun 21, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000056233.6
Allele description [Variation Report for NM_000540.3(RYR1):c.14581C>T (p.Arg4861Cys)]
NM_000540.3(RYR1):c.14581C>T (p.Arg4861Cys)
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
-
Mus musculus poly(rC) binding protein 4 (Pcbp4), mRNA
Mus musculus poly(rC) binding protein 4 (Pcbp4), mRNAgi|359718936|ref|NM_021567.5|Nucleotide
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Last Updated: Oct 26, 2024