NM_006790.3(MYOT):c.677A>T (p.Gln226Leu) AND Myofibrillar myopathy 3
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 24, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003616034.3
Allele description [Variation Report for NM_006790.3(MYOT):c.677A>T (p.Gln226Leu)]
NM_006790.3(MYOT):c.677A>T (p.Gln226Leu)
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 OTU domain containing 6A (Otud6a), mRNA
Mus musculus OTU domain containing 6A (Otud6a), mRNAgi|2187309937|ref|NM_001163191.3|Nucleotide
-
hypothetical protein CORT_0A06610 [Candida orthopsilosis Co 90-125]
hypothetical protein CORT_0A06610 [Candida orthopsilosis Co 90-125]gi|448511205|ref|XP_003866487.1|Protein
-
Chromosome neighbors for GEO Profiles (Select 66723668) (20)
GEO Profiles
-
Profile neighbors for GEO Profiles (Select 66724444) (133)
GEO Profiles
-
atp10 F1-F0 ATPase assembly protein [Schizosaccharomyces pombe]
atp10 F1-F0 ATPase assembly protein [Schizosaccharomyces pombe]Gene ID:2542816Gene
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024