NM_006790.3(MYOT):c.782T>C (p.Ile261Thr) AND Myofibrillar myopathy 3
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 27, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001373347.7
Allele description [Variation Report for NM_006790.3(MYOT):c.782T>C (p.Ile261Thr)]
NM_006790.3(MYOT):c.782T>C (p.Ile261Thr)
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
-
Homo sapiens coiled-coil domain containing 69 (CCDC69), mRNA
Homo sapiens coiled-coil domain containing 69 (CCDC69), mRNAgi|1519243595|ref|NM_015621.3|Nucleotide
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Last Updated: Sep 29, 2024