NM_006790.3(MYOT):c.690A>G (p.Arg230=) AND Myofibrillar myopathy 3
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jul 5, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002999314.3
Allele description [Variation Report for NM_006790.3(MYOT):c.690A>G (p.Arg230=)]
NM_006790.3(MYOT):c.690A>G (p.Arg230=)
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
-
Mus musculus cullin 9 (Cul9), mRNA
Mus musculus cullin 9 (Cul9), mRNAgi|402169574|ref|NM_001081335.2|Nucleotide
-
JGI_CABH6613.fwd NIH_XGC_tropSkeMus1 Xenopus tropicalis cDNA clone IMAGE:7849823...
JGI_CABH6613.fwd NIH_XGC_tropSkeMus1 Xenopus tropicalis cDNA clone IMAGE:7849823 5', mRNA sequencegi|73773612|gnl|dbEST|31028827|gb|D 15.1|Nucleotide
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AL799994 XGC-neurula Xenopus tropicalis cDNA clone TNeu090j23 5', mRNA sequence
AL799994 XGC-neurula Xenopus tropicalis cDNA clone TNeu090j23 5', mRNA sequencegi|38321528|gnl|dbEST|20379448|emb| 994.2|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024