NM_001267550.2(TTN):c.37525G>A (p.Glu12509Lys) AND Myopathy, myofibrillar, 9, with early respiratory failure
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Sep 10, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001840216.2
Allele description [Variation Report for NM_001267550.2(TTN):c.37525G>A (p.Glu12509Lys)]
NM_001267550.2(TTN):c.37525G>A (p.Glu12509Lys)
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
-
RecName: Full=Patatin-like phospholipase domain-containing protein 2; AltName: F...
RecName: Full=Patatin-like phospholipase domain-containing protein 2; AltName: Full=Adipose triglyceride lipase; AltName: Full=Calcium-independent phospholipase A2-zeta; Short=iPLA2-zeta; AltName: Full=Desnutrin; AltName: Full=Pigment epithelium-derived factor receptor; Short=PEDF-R; AltName: Full=TTS2.2; AltName: Full=Transport-secretion protein 2; Short=TTS2gi|74731110|sp|Q96AD5.1|PLPL2_HUMANProtein
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See more...Assertion and evidence details
Last Updated: Aug 11, 2024