NM_000257.4(MYH7):c.3974C>T (p.Ala1325Val) AND Myosin storage myopathy
- Germline classification:
- Uncertain significance (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:
- RCV003320160.8
Allele description [Variation Report for NM_000257.4(MYH7):c.3974C>T (p.Ala1325Val)]
NM_000257.4(MYH7):c.3974C>T (p.Ala1325Val)
Condition(s)
- Name:
- Myosin storage myopathy (CMYO7A)
- Synonyms:
- MYOPATHY, HYALINE BODY, AUTOSOMAL DOMINANT; Scapuloperoneal myopathy, MYH7-related; MYOPATHY WITH LYSIS OF TYPE I MYOFIBRILS; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008409; MedGen: C1842160; Orphanet: 437572; OMIM: 608358
-
carboxy terminal-processing peptidase [Acinetobacter vivianii]
carboxy terminal-processing peptidase [Acinetobacter vivianii]gi|2451041557|gb|WDZ51702.1||gnl|PR 8638|LF296_02540Protein
-
S41 family peptidase [Blastomonas marina]
S41 family peptidase [Blastomonas marina]gi|2634436112|gnl|PRJNA1046213|T8S4 80|gb|WPZ03462.1|Protein
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Last Updated: Oct 13, 2024