NM_001844.5(COL2A1):c.195C>T (p.Asp65=) AND COL2A1-related disorder
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 18, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004535312.2
Allele description [Variation Report for NM_001844.5(COL2A1):c.195C>T (p.Asp65=)]
NM_001844.5(COL2A1):c.195C>T (p.Asp65=)
Condition(s)
- Name:
- COL2A1-related disorder
- Synonyms:
- COL2A1-related condition; COL2A1-related disorders
- Identifiers:
Assertion and evidence details
Last Updated: Nov 3, 2024