NM_207122.2(EXT2):c.429C>A (p.Tyr143Ter) AND Exostoses, multiple, type 2
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Mar 4, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000553165.4
Allele description [Variation Report for NM_207122.2(EXT2):c.429C>A (p.Tyr143Ter)]
NM_207122.2(EXT2):c.429C>A (p.Tyr143Ter)
Condition(s)
Assertion and evidence details
Last Updated: Feb 20, 2024