NM_207122.2(EXT2):c.523G>C (p.Ala175Pro) AND EXT2-related disorder
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 6, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003399542.4
Allele description [Variation Report for NM_207122.2(EXT2):c.523G>C (p.Ala175Pro)]
NM_207122.2(EXT2):c.523G>C (p.Ala175Pro)
Condition(s)
- Name:
- EXT2-related disorder
- Synonyms:
- EXT2-related condition
- Identifiers:
Assertion and evidence details
Last Updated: May 12, 2024