NM_001844.5(COL2A1):c.3220G>A (p.Gly1074Ser) AND Hypochondrogenesis
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Nov 5, 1989
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000018895.27
Allele description [Variation Report for NM_001844.5(COL2A1):c.3220G>A (p.Gly1074Ser)]
NM_001844.5(COL2A1):c.3220G>A (p.Gly1074Ser)
Condition(s)
- Name:
- Hypochondrogenesis
- Identifiers:
- MONDO: MONDO:0019669; MedGen: C0542428
Assertion and evidence details
Last Updated: Apr 23, 2022