NM_001844.5(COL2A1):c.2401G>A (p.Gly801Ser) AND Achondrogenesis type II
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Aug 1, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003328140.2
Allele description [Variation Report for NM_001844.5(COL2A1):c.2401G>A (p.Gly801Ser)]
NM_001844.5(COL2A1):c.2401G>A (p.Gly801Ser)
Condition(s)
Assertion and evidence details
Last Updated: Sep 23, 2023