NM_001854.4(COL11A1):c.1427G>A (p.Arg476His) AND Fibrochondrogenesis 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000275597.5
Allele description [Variation Report for NM_001854.4(COL11A1):c.1427G>A (p.Arg476His)]
NM_001854.4(COL11A1):c.1427G>A (p.Arg476His)
Condition(s)
Assertion and evidence details
Last Updated: Feb 20, 2024