NM_001927.4(DES):c.110G>T (p.Arg37Leu) AND Desmin-related myofibrillar myopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 16, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001241290.2
Allele description [Variation Report for NM_001927.4(DES):c.110G>T (p.Arg37Leu)]
NM_001927.4(DES):c.110G>T (p.Arg37Leu)
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
-
LOC116140677 [Pistacia vera]
LOC116140677 [Pistacia vera]Gene ID:116140677Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024