NM_001927.4(DES):c.373A>T (p.Lys125Ter) AND Desmin-related myofibrillar myopathy
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Feb 24, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000700283.5
Allele description [Variation Report for NM_001927.4(DES):c.373A>T (p.Lys125Ter)]
NM_001927.4(DES):c.373A>T (p.Lys125Ter)
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
-
oxidosqualene cyclase [Rattus norvegicus]
oxidosqualene cyclase [Rattus norvegicus]gi|1098635|gb|AAA91023.1|Protein
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Burkholderia vietnamiensis strain WP40 genome assembly, contig: Ga0008008_101, w...
Burkholderia vietnamiensis strain WP40 genome assembly, contig: Ga0008008_101, whole genome shotgun sequencegi|1104133506|emb|FPJR01000001.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Feb 28, 2024