NM_001927.4(DES):c.1310G>A (p.Gly437Asp) AND Desmin-related myofibrillar myopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 15, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000228426.6
Allele description [Variation Report for NM_001927.4(DES):c.1310G>A (p.Gly437Asp)]
NM_001927.4(DES):c.1310G>A (p.Gly437Asp)
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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Bma-sgn-1 [Brugia malayi]
Bma-sgn-1 [Brugia malayi]Gene ID:6105712Gene
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TRPM5 transient receptor potential cation channel subfamily M member 5 [Homo sap...
TRPM5 transient receptor potential cation channel subfamily M member 5 [Homo sapiens]Gene ID:29850Gene
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Gene Links for GEO Profiles (Select 27113640) (1)
Gene
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Homologene neighbors for GEO Profiles (Select 27152842) (0)
GEO Profiles
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Chromosome neighbors for GEO Profiles (Select 49010392) (20)
GEO Profiles
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See more...Assertion and evidence details
Last Updated: Feb 28, 2024