NM_001267550.2(TTN):c.70250T>C (p.Ile23417Thr) 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:
- RCV001840141.2
Allele description [Variation Report for NM_001267550.2(TTN):c.70250T>C (p.Ile23417Thr)]
NM_001267550.2(TTN):c.70250T>C (p.Ile23417Thr)
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
-
PREDICTED: Canis lupus familiaris cardiomyopathy associated 5 (CMYA5), mRNA
PREDICTED: Canis lupus familiaris cardiomyopathy associated 5 (CMYA5), mRNAgi|1953357236|ref|XM_038660527.1|Nucleotide
-
Mus musculus tripartite motif-containing 13 (Trim13), transcript variant 2, mRNA
Mus musculus tripartite motif-containing 13 (Trim13), transcript variant 2, mRNAgi|255982499|ref|NM_023233.3|Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 20, 2024