NM_001927.4(DES):c.411C>T (p.Ala137=) AND Desmin-related myofibrillar myopathy
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 8, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002208089.6
Allele description [Variation Report for NM_001927.4(DES):c.411C>T (p.Ala137=)]
NM_001927.4(DES):c.411C>T (p.Ala137=)
Condition(s)
- Name:
- Desmin-related myofibrillar myopathy (MFM1)
- Synonyms:
- Desminopathy; Desmin related myopathy (former name); Desmin storage myopathy (former name); See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011076; MedGen: C1832370; Orphanet: 363543; Orphanet: 98909; OMIM: 601419
-
Oxysterol binding protein-like 10 [Mus musculus]
Oxysterol binding protein-like 10 [Mus musculus]gi|20071006|gb|AAH27256.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024