NM_001927.4(DES):c.1023+5G>A AND Desmin-related myofibrillar myopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 25, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003051304.2
Allele description
NM_001927.4(DES):c.1023+5G>A
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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RecName: Full=Methyl-coenzyme M reductase I subunit alpha; Short=MCR I alpha; Al...
RecName: Full=Methyl-coenzyme M reductase I subunit alpha; Short=MCR I alpha; AltName: Full=Coenzyme-B sulfoethylthiotransferase alphagi|3915769|sp|Q58256.2|MCRA_METJAProtein
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Mus musculus 0 day neonate eyeball cDNA, RIKEN full-length enriched library, clo...
Mus musculus 0 day neonate eyeball cDNA, RIKEN full-length enriched library, clone:E130118L06 product:zinc finger protein 46, full insert sequencegi|26343614|dbj|AK053652.1|Nucleotide
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Clostridium perfringens strain CP-26, whole genome shotgun sequencing project
Clostridium perfringens strain CP-26, whole genome shotgun sequencing projectgi|1818172367|gb|JAALMN000000000.1| N010000000Nucleotide
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Clostridium perfringens strain CP-40, whole genome shotgun sequencing project
Clostridium perfringens strain CP-40, whole genome shotgun sequencing projectgi|1818172402|gb|JAALLZ000000000.1| Z010000000Nucleotide
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CP-44
CP-44biosample
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Last Updated: Sep 16, 2024