NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn) AND Myosin storage myopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 20, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003320077.8
Allele description [Variation Report for NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn)]
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn)
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
-
PREDICTED: Acanthisitta chloris E3 ubiquitin-protein ligase CBL-like (LOC1038002...
PREDICTED: Acanthisitta chloris E3 ubiquitin-protein ligase CBL-like (LOC103800205), partial mRNAgi|677970554|ref|XM_009072574.1|Nucleotide
-
Chlamydia trachomatis strain L2/Hefty/ct732::Tn chromosome, complete genome
Chlamydia trachomatis strain L2/Hefty/ct732::Tn chromosome, complete genomegi|2037193209|ref|NZ_CP035760.1|Nucleotide
-
Chlamydia trachomatis strain L2f chromosome, complete genome
Chlamydia trachomatis strain L2f chromosome, complete genomegi|2318441867|ref|NZ_CP106985.1|Nucleotide
-
C7orf70 (1)
OMIM
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Last Updated: Oct 8, 2024