S62* (p.Ser62Ter) variant of SLC26A2 (Sulfate transporter)
S62* (p.Ser62Ter) 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.
S62* (p.Ser62Ter) variant details
- p.Ser62Ter
- rs1057517523
- ClinGen CA16040984
- ClinVar RCV000409043
- ClinVar RCV000409914
- 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)