NM_002381.5(MATN3):c.659T>C (p.Val220Ala) AND Multiple epiphyseal dysplasia
- Germline classification:
- not provided (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002067572.2
Allele description [Variation Report for NM_002381.5(MATN3):c.659T>C (p.Val220Ala)]
NM_002381.5(MATN3):c.659T>C (p.Val220Ala)
Condition(s)
- Name:
- Multiple epiphyseal dysplasia
- Synonyms:
- Multiple epiphyseal dysplasia (disease)
- Identifiers:
- MONDO: MONDO:0016648; MedGen: C0026760; OMIM: PS132400; Human Phenotype Ontology: HP:0002654
-
arginine N-methyltransferase 1 [Schistosoma japonicum]
arginine N-methyltransferase 1 [Schistosoma japonicum]gi|224813804|gb|ACN65119.1|Protein
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Last Updated: Jun 17, 2024