NM_000493.4(COL10A1):c.1952G>A (p.Trp651Ter) AND not provided
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Nov 5, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001269997.2
Allele description [Variation Report for NM_000493.4(COL10A1):c.1952G>A (p.Trp651Ter)]
NM_000493.4(COL10A1):c.1952G>A (p.Trp651Ter)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
Assertion and evidence details
Last Updated: Sep 1, 2024