NM_006790.3(MYOT):c.1118C>T (p.Ser373Leu) AND Myofibrillar myopathy 3
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 17, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003086592.2
Allele description [Variation Report for NM_006790.3(MYOT):c.1118C>T (p.Ser373Leu)]
NM_006790.3(MYOT):c.1118C>T (p.Ser373Leu)
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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txid498019[orgn] AND "isolate AR/0382"[All Fields] (1)
PopSet
-
[Candida] auris sequence.
[Candida] auris sequence.PopSet: 1951691980PopSet
-
Concise Conserved Domain Links for Protein (Select 45594310) (1)
Conserved Domains
-
BioProject Links for Nucleotide (Select 2711460822) (1)
BioProject
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See more...Assertion and evidence details
Last Updated: Feb 20, 2024