NM_006790.3(MYOT):c.50G>A (p.Cys17Tyr) AND Myofibrillar myopathy 3
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 7, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001911119.4
Allele description [Variation Report for NM_006790.3(MYOT):c.50G>A (p.Cys17Tyr)]
NM_006790.3(MYOT):c.50G>A (p.Cys17Tyr)
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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Mus musculus heat shock protein family, member 7 (cardiovascular), mRNA (cDNA cl...
Mus musculus heat shock protein family, member 7 (cardiovascular), mRNA (cDNA clone MGC:107591 IMAGE:6755510), complete cdsgi|58477663|gb|BC089584.1|Nucleotide
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Gm52875 predicted gene, 52875 [Mus musculus]
Gm52875 predicted gene, 52875 [Mus musculus]Gene ID:115490369Gene
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Last Updated: Sep 29, 2024