NM_001267550.2(TTN):c.69740C>T (p.Pro23247Leu) AND Myopathy, myofibrillar, 9, with early respiratory failure
- Germline classification:
- Benign/Likely 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:
- RCV000288739.15
Allele description [Variation Report for NM_001267550.2(TTN):c.69740C>T (p.Pro23247Leu)]
NM_001267550.2(TTN):c.69740C>T (p.Pro23247Leu)
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
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Acinetobacter baumannii 45052_2 ab450522.contig.118_1, whole genome shotgun sequ...
Acinetobacter baumannii 45052_2 ab450522.contig.118_1, whole genome shotgun sequencegi|630621149|gb|JMPD01000119.1||gnl JMPD01|ab450522.contig.118_1Nucleotide
-
Acinetobacter baumannii 45052_2 ab450522.contig.105_1, whole genome shotgun sequ...
Acinetobacter baumannii 45052_2 ab450522.contig.105_1, whole genome shotgun sequencegi|630621566|gb|JMPD01000106.1||gnl JMPD01|ab450522.contig.105_1Nucleotide
-
Acinetobacter baumannii 45052_2 ab450522.contig.99_1, whole genome shotgun seque...
Acinetobacter baumannii 45052_2 ab450522.contig.99_1, whole genome shotgun sequencegi|630621762|gb|JMPD01000100.1||gnl JMPD01|ab450522.contig.99_1Nucleotide
-
Xanthomonas translucens strain B1 flattened_line_206, whole genome shotgun seque...
Xanthomonas translucens strain B1 flattened_line_206, whole genome shotgun sequencegi|983279722|gb|LNTA01000074.1||gnl LNTA01|flattened_line_206Nucleotide
-
Xanthomonas translucens strain B2 flattened_line_759, whole genome shotgun seque...
Xanthomonas translucens strain B2 flattened_line_759, whole genome shotgun sequencegi|983274796|gb|LNSZ01000373.1||gnl LNSZ01|flattened_line_759Nucleotide
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Last Updated: Sep 16, 2024