NM_001267550.2(TTN):c.44519T>A (p.Phe14840Tyr) AND Myopathy, myofibrillar, 9, with early respiratory failure
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000367926.5
Allele description [Variation Report for NM_001267550.2(TTN):c.44519T>A (p.Phe14840Tyr)]
NM_001267550.2(TTN):c.44519T>A (p.Phe14840Tyr)
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:
- MONDO: MONDO:0011362; MedGen: C1863599; Orphanet: 178464; Orphanet: 34521; OMIM: 603689
Assertion and evidence details
Last Updated: Jul 29, 2024