T111S (p.Thr111Ser) variant of SLC9A3 (Sodium/hydrogen exchanger 3)
T111S (p.Thr111Ser) in SLC9A3 (Sodium/hydrogen exchanger 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided. The record also includes published literature and structural context.
T111S (p.Thr111Ser) variant details
- p.Thr111Ser
- rs2477626010
- ClinGen CA359031460
- ClinVar RCV003562425
- ClinVar RCV004369283
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)