NM_006790.3(MYOT):c.650A>G (p.His217Arg) AND Myofibrillar myopathy 3
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 27, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000820634.8
Allele description [Variation Report for NM_006790.3(MYOT):c.650A>G (p.His217Arg)]
NM_006790.3(MYOT):c.650A>G (p.His217Arg)
Condition(s)
- Name:
- Myofibrillar myopathy 3 (MFM3)
- Synonyms:
- Limb-girdle muscular dystrophy, type 1A; Muscular dystrophy, proximal, type 1A; Spheroid body myopathy; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0012215; MedGen: C3714934; Orphanet: 266; Orphanet: 268129; OMIM: 609200
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EC2CAA11CG04.g1 Xenopus tropicalis xthr plasmid library Xenopus tropicalis cDNA ...
EC2CAA11CG04.g1 Xenopus tropicalis xthr plasmid library Xenopus tropicalis cDNA clone xthr11N07 5', mRNA sequencegi|45889268|gnl|dbEST|22209761|gb|C 72.1|Nucleotide
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AL955989 XGC-gastrula Xenopus tropicalis cDNA clone TGas124o12 5', mRNA sequence
AL955989 XGC-gastrula Xenopus tropicalis cDNA clone TGas124o12 5', mRNA sequencegi|38705475|gnl|dbEST|20728316|emb| 989.2|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024