R28S (p.Arg28Ser) variant of SPTA1 (P02549)
R28S (p.Arg28Ser) in SPTA1 (P02549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The record also includes published literature.
R28S (p.Arg28Ser) variant details
- p.Arg28Ser
- rs121918642
- ClinGen CA122757
- ClinVar RCV000013708
- ClinVar RCV000013709
- Pathogenic
- not provided
- Missense
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic (in EL2)
- UniProt: Pathogenic (in EL2)
- Cited in: Four different mutations in codon 28 of alpha spectrin are associated with structurally and functionally abnormal… (PMID 1679439)
- Cited in: A defect in alpha-spectrin mRNA accumulation in hereditary pyropoikilocytosis. (PMID 1845156)