NM_001927.4(DES):c.380G>C (p.Arg127Pro) AND Desmin-related myofibrillar myopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 23, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000547988.8
Allele description [Variation Report for NM_001927.4(DES):c.380G>C (p.Arg127Pro)]
NM_001927.4(DES):c.380G>C (p.Arg127Pro)
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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Homo sapiens mitogen-activated protein kinase kinase kinase 20 (MAP3K20), transc...
Homo sapiens mitogen-activated protein kinase kinase kinase 20 (MAP3K20), transcript variant 1, mRNAgi|1519314972|ref|NM_016653.3|Nucleotide
-
Homo sapiens G protein-coupled receptor 155, mRNA (cDNA clone MGC:33390 IMAGE:48...
Homo sapiens G protein-coupled receptor 155, mRNA (cDNA clone MGC:33390 IMAGE:4813561), complete cdsgi|22382235|gb|BC028730.1|Nucleotide
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Last Updated: Mar 5, 2024