NM_001369268.1(ACAN):c.438G>A (p.Leu146=) AND Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Dec 5, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002253714.1
Allele description [Variation Report for NM_001369268.1(ACAN):c.438G>A (p.Leu146=)]
NM_001369268.1(ACAN):c.438G>A (p.Leu146=)
Condition(s)
Assertion and evidence details
Last Updated: Apr 15, 2024