NM_001927.4(DES):c.834G>C (p.Arg278=) AND Desmin-related myofibrillar myopathy
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Apr 9, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003035544.2
Allele description [Variation Report for NM_001927.4(DES):c.834G>C (p.Arg278=)]
NM_001927.4(DES):c.834G>C (p.Arg278=)
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
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UI-H-BW1-amz-c-05-0-UI.s2 NCI_CGAP_Sub7 Homo sapiens cDNA clone IMAGE:3071601 3'...
UI-H-BW1-amz-c-05-0-UI.s2 NCI_CGAP_Sub7 Homo sapiens cDNA clone IMAGE:3071601 3', mRNA sequencegi|11590735|gnl|dbEST|7034802|gb|BF 7.1|Nucleotide
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Superfamily Links for Conserved Domains (Select 276805) (1)
Conserved Domains
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Last Updated: Feb 28, 2024