NM_000493.4(COL10A1):c.1945C>T (p.Gln649Ter) AND Metaphyseal chondrodysplasia, Schmid type
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Feb 20, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004555013.1
Allele description [Variation Report for NM_000493.4(COL10A1):c.1945C>T (p.Gln649Ter)]
NM_000493.4(COL10A1):c.1945C>T (p.Gln649Ter)
Condition(s)
Assertion and evidence details
Last Updated: Sep 1, 2024