NM_000540.3(RYR1):c.7855C>T (p.Leu2619=) AND Central core myopathy
- Germline classification:
- Likely benign (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:
- RCV000385132.5
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:
- 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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CRYBA4 crystallin beta A4 [Homo sapiens]
CRYBA4 crystallin beta A4 [Homo sapiens]Gene ID:1413Gene
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Gene Links for GEO Profiles (Select 62854104) (1)
Gene
-
Homologene neighbors for GEO Profiles (Select 132507713) (0)
GEO Profiles
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Homologene neighbors for GEO Profiles (Select 132492526) (0)
GEO Profiles
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Homologene neighbors for GEO Profiles (Select 132498825) (0)
GEO Profiles
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See more...Assertion and evidence details
Last Updated: Jul 29, 2024