NM_000257.4(MYH7):c.2765T>C (p.Met922Thr) AND MYH7-related skeletal myopathy
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001110337.11
Allele description [Variation Report for NM_000257.4(MYH7):c.2765T>C (p.Met922Thr)]
NM_000257.4(MYH7):c.2765T>C (p.Met922Thr)
Condition(s)
- Name:
- MYH7-related skeletal myopathy
- Synonyms:
- MYOPATHY, DISTAL, EARLY-ONSET, AUTOSOMAL DOMINANT; MYOPATHY, LATE DISTAL HEREDITARY; Myopathy, distal, 1; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008050; MedGen: C4552004; Orphanet: 59135; OMIM: 160500
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Lysobacter enzymogenes endoproteinase Arg-C precursor (ler) gene, complete cds; ...
Lysobacter enzymogenes endoproteinase Arg-C precursor (ler) gene, complete cds; and s3_ORF2 pseudogene, partial sequencegi|3493144|gb|AF083621.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Aug 25, 2024