NM_000095.3(COMP):c.1403G>T (p.Cys468Phe) AND Abnormality of the skeletal system
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jul 10, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001814443.1
Allele description [Variation Report for NM_000095.3(COMP):c.1403G>T (p.Cys468Phe)]
NM_000095.3(COMP):c.1403G>T (p.Cys468Phe)
Condition(s)
- Name:
- Abnormality of the skeletal system
- Identifiers:
- MedGen: C4021790; Human Phenotype Ontology: HP:0000924
-
hypothetical protein, partial [Pseudomonas aeruginosa]
hypothetical protein, partial [Pseudomonas aeruginosa]gi|2288218425|ref|WP_258146122.1|Protein
-
Chain C, Ubiquitin-protein ligase E3A
Chain C, Ubiquitin-protein ligase E3Agi|1812778976|pdb|6TGK|CProtein
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Last Updated: Dec 24, 2023