NM_000112.4(SLC26A2):c.473G>A (p.Arg158His) AND Achondrogenesis, type IB
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 7, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001329030.1
Allele description [Variation Report for NM_000112.4(SLC26A2):c.473G>A (p.Arg158His)]
NM_000112.4(SLC26A2):c.473G>A (p.Arg158His)
Condition(s)
Assertion and evidence details
Last Updated: Dec 24, 2023