NM_001927.4(DES):c.345C>G (p.Leu115=) AND Desmin-related myofibrillar myopathy
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 24, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003080887.3
Allele description [Variation Report for NM_001927.4(DES):c.345C>G (p.Leu115=)]
NM_001927.4(DES):c.345C>G (p.Leu115=)
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
-
uncharacterized protein LACBIDRAFT_243174, partial [Laccaria bicolor S238N-H82]
uncharacterized protein LACBIDRAFT_243174, partial [Laccaria bicolor S238N-H82]gi|170085089|ref|XP_001873768.1|Protein
-
tail-specific protease [Christiangramia forsetii KT0803]
tail-specific protease [Christiangramia forsetii KT0803]gi|117579441|emb|CAL67910.1|Protein
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LOC107803655 [Nicotiana tabacum]
LOC107803655 [Nicotiana tabacum]Gene ID:107803655Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024