K40* (p.Lys40Ter) variant of SLC26A2 (Sulfate transporter)
K40* (p.Lys40Ter) in SLC26A2 (Sulfate transporter) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
K40* (p.Lys40Ter) variant details
- p.Lys40Ter
- rs2480770209
- ClinGen CA361704038
- ClinVar RCV003020212
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Achondrogenesis Type 1B. (PMID 20301689)
- Cited in: SLC26A2-Related Atelosteogenesis. (PMID 20301493)