NM_001927.4(DES):c.1383G>A (p.Glu461=) AND Desmin-related myofibrillar myopathy
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Mar 18, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002218781.6
Allele description [Variation Report for NM_001927.4(DES):c.1383G>A (p.Glu461=)]
NM_001927.4(DES):c.1383G>A (p.Glu461=)
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
-
Mus musculus family with sequence similarity 173, member A (Fam173a), mRNA
Mus musculus family with sequence similarity 173, member A (Fam173a), mRNAgi|142348873|ref|NM_145410.3|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024