T115I (p.Thr115Ile) variant of SLC4A1 (Band 3 anion transport protein)
T115I (p.Thr115Ile) in SLC4A1 (Band 3 anion transport protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Hereditary spherocytosis type 4; Autosomal dominant dis. The record also includes published literature and structural context.
T115I (p.Thr115Ile) variant details
- p.Thr115Ile
- rs2047435077
- ClinGen CA399795615
- ClinVar RCV001121982
- ClinVar RCV001121983
- Uncertain significance
- Inborn genetic diseases; Hereditary spherocytosis type 4; Autosomal dominant dis
- Missense
- ClinVar: Uncertain significance (Inborn genetic diseases; Hereditary spherocytosis type 4; Autoso)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Hereditary Distal Renal Tubular Acidosis. (PMID 31600044)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)