NM_002755.4(MAP2K1):c.237C>T (p.Gly79=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 29, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002504859.1
Allele description [Variation Report for NM_002755.4(MAP2K1):c.237C>T (p.Gly79=)]
NM_002755.4(MAP2K1):c.237C>T (p.Gly79=)
Condition(s)
- Name:
- Melorheostosis (MEL)
- Synonyms:
- MELORHEOSTOSIS, ISOLATED
- Identifiers:
- MONDO: MONDO:0007970; MedGen: C3149631; Orphanet: 2485; OMIM: 155950; Human Phenotype Ontology: HP:6000817
Assertion and evidence details
Last Updated: Aug 4, 2024