NM_006790.3(MYOT):c.1363C>T (p.Arg455Trp) AND Myofibrillar myopathy 3
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 21, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003615941.1
Allele description [Variation Report for NM_006790.3(MYOT):c.1363C>T (p.Arg455Trp)]
NM_006790.3(MYOT):c.1363C>T (p.Arg455Trp)
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
-
PREDICTED: Buceros rhinoceros silvestris phosphatase, orphan 1 (PHOSPHO1), mRNA
PREDICTED: Buceros rhinoceros silvestris phosphatase, orphan 1 (PHOSPHO1), mRNAgi|704164987|ref|XM_010131294.1|Nucleotide
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Last Updated: Feb 28, 2024