NM_005476.7(GNE):c.*691A>T AND Inclusion Body Myopathy, Recessive
- 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:
- RCV000353032.5
Allele description [Variation Report for NM_005476.7(GNE):c.*691A>T]
NM_005476.7(GNE):c.*691A>T
Condition(s)
- Name:
- Inclusion Body Myopathy, Recessive
- Identifiers:
- MedGen: CN239230
-
Lipid Metabolism, Inborn Errors
Lipid Metabolism, Inborn ErrorsErrors in the metabolism of LIPIDS resulting from inborn genetic MUTATIONS that are heritable.<br/>Year introduced: 1965MeSH
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Last Updated: Aug 25, 2024