NM_001267550.2(TTN):c.47271T>C (p.Asp15757=) AND Myopathy, myofibrillar, 9, with early respiratory failure
- Germline classification:
- Benign (2 submissions)
- 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:
- RCV000260454.15
Allele description [Variation Report for NM_001267550.2(TTN):c.47271T>C (p.Asp15757=)]
NM_001267550.2(TTN):c.47271T>C (p.Asp15757=)
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
-
oocyte zinc finger protein XlCOF7.1-like, partial [Xenopus tropicalis]
oocyte zinc finger protein XlCOF7.1-like, partial [Xenopus tropicalis]gi|1785412798|ref|XP_031748911.1|Protein
-
Gene Links for GEO Profiles (Select 132569456) (1)
Gene
-
SLX1A SLX1 homolog A, structure-specific endonuclease subunit [Homo sapiens]
SLX1A SLX1 homolog A, structure-specific endonuclease subunit [Homo sapiens]Gene ID:548593Gene
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Related DataSets for GEO Profiles (Select 132537699) (1)
GEO DataSets
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MicroRNA-135b overexpression effect on prostate cancer cell line: time course
MicroRNA-135b overexpression effect on prostate cancer cell line: time courseAccession: GDS6100GEO DataSets
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Last Updated: Oct 13, 2024