NM_006790.3(MYOT):c.859G>A (p.Gly287Arg) AND Myofibrillar myopathy 3
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 10, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001315774.8
Allele description [Variation Report for NM_006790.3(MYOT):c.859G>A (p.Gly287Arg)]
NM_006790.3(MYOT):c.859G>A (p.Gly287Arg)
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
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yh20e01.r1 Soares placenta Nb2HP Homo sapiens cDNA clone IMAGE:130296 5', mRNA s...
yh20e01.r1 Soares placenta Nb2HP Homo sapiens cDNA clone IMAGE:130296 5', mRNA sequencegi|775965|gnl|dbEST|191201|gb|R2118Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 20, 2024