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
-
phosphoribosyltransferase domain-containing protein 1 isoform 1 [Homo sapiens]
phosphoribosyltransferase domain-containing protein 1 isoform 1 [Homo sapiens]gi|9910262|ref|NP_064585.1|Protein
-
Paget disease of the nipple
Paget disease of the nippleMedGen
-
C1704323[conceptid] (1)
MedGen
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Last Updated: Oct 20, 2024