NM_001927.4(DES):c.1034T>C (p.Leu345Pro) AND Myofibrillar myopathy 1
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Nov 1, 1999
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000018319.29
Allele description
NM_001927.4(DES):c.1034T>C (p.Leu345Pro)
Condition(s)
- Name:
- Myofibrillar myopathy 1 (MFM1)
- Synonyms:
- MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED; Desminopathy; Desmin related myopathy (former name); See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011076; MedGen: C1832370; Orphanet: 98909; OMIM: 601419
Assertion and evidence details
Last Updated: Jul 2, 2022