NM_001267550.2(TTN):c.98556T>C (p.Gly32852=) AND Myopathy, myofibrillar, 9, with early respiratory failure
- Germline classification:
- Benign (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:
- RCV000316176.5
Allele description [Variation Report for NM_001267550.2(TTN):c.98556T>C (p.Gly32852=)]
NM_001267550.2(TTN):c.98556T>C (p.Gly32852=)
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
-
Chain P, 40S RIBOSOMAL PROTEIN S15
Chain P, 40S RIBOSOMAL PROTEIN S15gi|764090874|pdb|4D61|PProtein
-
Sequence 4 from patent US 5648226
Sequence 4 from patent US 5648226gi|2488622|pat|US|5648226|4|gb|AAB7 1|I56176Protein
-
int [Staphylococcus aureus subsp. aureus str. Newman]
int [Staphylococcus aureus subsp. aureus str. Newman]Gene ID:5332394Gene
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Last Updated: Jul 29, 2024