NM_001927.4(DES):c.346_350delinsTAGT (p.Asn116_Asp117delinsTer) AND Desmin-related myofibrillar myopathy
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Oct 17, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003080888.3
Allele description [Variation Report for NM_001927.4(DES):c.346_350delinsTAGT (p.Asn116_Asp117delinsTer)]
NM_001927.4(DES):c.346_350delinsTAGT (p.Asn116_Asp117delinsTer)
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
-
N7525_008974 [Penicillium rubens]
N7525_008974 [Penicillium rubens]Gene ID:8312896Gene
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Last Updated: Sep 29, 2024