NM_006790.3(MYOT):c.*190C>G AND Myofibrillar myopathy 3
- Germline classification:
- Benign (2 submissions)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000376796.13
Allele description [Variation Report for NM_006790.3(MYOT):c.*190C>G]
NM_006790.3(MYOT):c.*190C>G
Condition(s)
- Name:
- Myofibrillar myopathy 3 (MFM3)
- Synonyms:
- Limb-girdle muscular dystrophy, type 1A; Muscular dystrophy, proximal, type 1A; Spheroid body myopathy; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0012215; MedGen: C3714934; Orphanet: 266; Orphanet: 268129; OMIM: 609200
-
LOC4328745 [Oryza sativa Japonica Group]
LOC4328745 [Oryza sativa Japonica Group]Gene ID:4328745Gene
-
2024--700bet.net---900bet.net (34434)
BioProject
-
Hemicaranx amblyrhynchus[orgn] (0)
Genome
-
Ariosoma dolichopterum[orgn] (0)
Genome
-
Plectorhinchus diagrammus[orgn] (18)
Nucleotide
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See more...Assertion and evidence details
Last Updated: Jul 7, 2024