NM_001927.4(DES):c.245C>T (p.Ser82Phe) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 20, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002492181.1
Allele description [Variation Report for NM_001927.4(DES):c.245C>T (p.Ser82Phe)]
NM_001927.4(DES):c.245C>T (p.Ser82Phe)
Condition(s)
- Name:
- Dilated cardiomyopathy 1I (CMD1I)
- Identifiers:
- MONDO: MONDO:0011482; MedGen: C1858154; Orphanet: 154; OMIM: 604765
- 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
Assertion and evidence details
Last Updated: Mar 5, 2024