NM_001267550.2(TTN):c.65062G>A (p.Gly21688Arg) AND Myopathy, myofibrillar, 9, with early respiratory failure
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 25, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001336916.1
Allele description [Variation Report for NM_001267550.2(TTN):c.65062G>A (p.Gly21688Arg)]
NM_001267550.2(TTN):c.65062G>A (p.Gly21688Arg)
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
-
hypothetical protein HR69_00460 [Listeria monocytogenes]
hypothetical protein HR69_00460 [Listeria monocytogenes]gi|664927351|gb|KET33008.1||gnl|WGS |HR69_00460Protein
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See more...Assertion and evidence details
Last Updated: Aug 5, 2023