NM_000540.3(RYR1):c.14126C>T (p.Thr4709Met) AND multiple conditions
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Oct 31, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000763429.2
Allele description [Variation Report for NM_000540.3(RYR1):c.14126C>T (p.Thr4709Met)]
NM_000540.3(RYR1):c.14126C>T (p.Thr4709Met)
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
- Name:
- Malignant hyperthermia, susceptibility to, 1 (MHS1)
- Synonyms:
- Anesthesia related hyperthermia; Malignant hyperpyrexia; Fulminating hyperpyrexia; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007783; MedGen: C2930980; Orphanet: 423; OMIM: 145600
- 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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Mus musculus ArfGAP with SH# domain, ankyrin repeat and PH domain1, mRNA (cDNA c...
Mus musculus ArfGAP with SH# domain, ankyrin repeat and PH domain1, mRNA (cDNA clone MGC:106491 IMAGE:30549241), complete cdsgi|63101607|gb|BC094581.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Jul 29, 2024