NM_001844.5(COL2A1):c.3896G>A (p.Trp1299Ter) AND Stickler syndrome type 1
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jun 4, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001591924.1
Allele description [Variation Report for NM_001844.5(COL2A1):c.3896G>A (p.Trp1299Ter)]
NM_001844.5(COL2A1):c.3896G>A (p.Trp1299Ter)
Condition(s)
Assertion and evidence details
Last Updated: Mar 10, 2024