NM_001267550.2(TTN):c.4715G>A (p.Arg1572Gln) AND Myopathy, myofibrillar, 9, with early respiratory failure
- 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:
- RCV000263185.1
Allele description
NM_001267550.2(TTN):c.4715G>A (p.Arg1572Gln)
Condition(s)
- Name:
- Myopathy, myofibrillar, 9, with early respiratory failure (MFM9)
- Synonyms:
- EDSTROM MYOPATHY; MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT; Hereditary myopathy with early respiratory failure; See all synonyms [MedGen]
- Identifiers:
- MedGen: C1863599; Orphanet: 178464; Orphanet: 34521; OMIM: 603689
Assertion and evidence details
Last Updated: May 4, 2020