NM_001927.4(DES):c.367A>G (p.Ile123Val) AND Desmin-related myofibrillar myopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001228319.5
Allele description [Variation Report for NM_001927.4(DES):c.367A>G (p.Ile123Val)]
NM_001927.4(DES):c.367A>G (p.Ile123Val)
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
-
S41 family peptidase [Aeribacillus composti]
S41 family peptidase [Aeribacillus composti]gi|2579543038|gnl|PRJNA1015106|RI19 10|gb|WNF33746.1|Protein
-
peptidase S41 [Pseudodesulfovibrio portus]
peptidase S41 [Pseudodesulfovibrio portus]gi|2296713108|dbj|BDQ32719.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024