S16* (p.Ser16Ter) variant of SLC26A2 (Sulfate transporter)
S16* (p.Ser16Ter) in SLC26A2 (Sulfate transporter) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes published literature and structural context.
S16* (p.Ser16Ter) variant details
- p.Ser16Ter
- rs386833505
- ClinGen CA263266
- ClinVar RCV000049433
- ClinVar RCV003474628
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Achondrogenesis Type 1B. (PMID 20301689)
- Cited in: SLC26A2-Related Atelosteogenesis. (PMID 20301493)