NM_000127.3(EXT1):c.252G>C (p.Gln84His) AND Chondrosarcoma
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 7, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003462921.1
Allele description [Variation Report for NM_000127.3(EXT1):c.252G>C (p.Gln84His)]
NM_000127.3(EXT1):c.252G>C (p.Gln84His)
Condition(s)
- Name:
- Chondrosarcoma
- Synonyms:
- Chondrosarcoma, somatic
- Identifiers:
- MONDO: MONDO:0008977; MedGen: C0008479; Orphanet: 55880; OMIM: 215300; Human Phenotype Ontology: HP:0006765
Assertion and evidence details
Last Updated: Mar 30, 2024