NM_000257.4(MYH7):c.733-3C>T AND Scapuloperoneal myopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000372281.12
Allele description [Variation Report for NM_000257.4(MYH7):c.733-3C>T]
NM_000257.4(MYH7):c.733-3C>T
Condition(s)
- Name:
- Scapuloperoneal myopathy
- Identifiers:
- MONDO: MONDO:0000727; MedGen: C2931268; Human Phenotype Ontology: HP:0009054
-
grainyhead-like protein 2 homolog isoform 1 [Homo sapiens]
grainyhead-like protein 2 homolog isoform 1 [Homo sapiens]gi|170784817|ref|NP_079191.2|Protein
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Last Updated: Sep 29, 2024