NM_001927.4(DES):c.112del (p.Ala38fs) AND Desmin-related myofibrillar myopathy
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jan 28, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002037926.4
Allele description [Variation Report for NM_001927.4(DES):c.112del (p.Ala38fs)]
NM_001927.4(DES):c.112del (p.Ala38fs)
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
-
polygalacturonase [Aspergillus oryzae]
polygalacturonase [Aspergillus oryzae]gi|333943955|dbj|BAA03244.2|Protein
-
LOC103980695 [Musa acuminata AAA Group]
LOC103980695 [Musa acuminata AAA Group]Gene ID:103980695Gene
-
uncharacterized protein LOC101213340 [Cucumis sativus]
uncharacterized protein LOC101213340 [Cucumis sativus]gi|449441218|ref|XP_004138379.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024