R45T (p.Arg45Thr) variant of SPTA1 (P02549)
R45T (p.Arg45Thr) in SPTA1 (P02549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided. The record also includes published literature.
R45T (p.Arg45Thr) variant details
- p.Arg45Thr
- rs374697328
- ClinGen CA343026736
- ClinVar RCV003132655
- UniProt VAR 001333
- Conflicting interpretations
- not provided
- Missense
- ClinVar: Conflicting classifications of pathogenicity (not provided)
- EBI: Pathogenic (in EL2)
- UniProt: Pathogenic (in EL2)
- Cited in: Spectrin Anastasia (alpha I/78): a new spectrin variant (alpha 45 Arg-->Thr) with moderate elliptocytogenic potential. (PMID 7772539)
- Cited in: A common type of the spectrin alpha I 46-50a-kD peptide abnormality in hereditary elliptocytosis and pyropoikilocytosis… (PMID 1541680)