NM_000257.4(MYH7):c.28G>C (p.Gly10Arg) AND Myosin storage myopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 27, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003320109.8
Allele description [Variation Report for NM_000257.4(MYH7):c.28G>C (p.Gly10Arg)]
NM_000257.4(MYH7):c.28G>C (p.Gly10Arg)
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
-
Homo sapiens ataxin 2 related protein (A2LP), transcript variant 2, mRNA
Homo sapiens ataxin 2 related protein (A2LP), transcript variant 2, mRNAgi|9665244|ref|NM_017492.1|Nucleotide
-
probable arginine--tRNA ligase, mitochondrial isoform 1 precursor [Homo sapiens]
probable arginine--tRNA ligase, mitochondrial isoform 1 precursor [Homo sapiens]gi|197100773|ref|NP_064716.2|Protein
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Last Updated: Oct 13, 2024