NM_000112.4(SLC26A2):c.1777G>T (p.Glu593Ter) AND Achondrogenesis, type IB
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Sep 23, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003473759.1
Allele description [Variation Report for NM_000112.4(SLC26A2):c.1777G>T (p.Glu593Ter)]
NM_000112.4(SLC26A2):c.1777G>T (p.Glu593Ter)
Condition(s)
Assertion and evidence details
Last Updated: Oct 20, 2024