L49F (p.Leu49Phe) variant of SPTA1 (P02549)
L49F (p.Leu49Phe) in SPTA1 (P02549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Elliptocytosis 2; Hereditary spherocytosis type 2. The record also includes published literature.
L49F (p.Leu49Phe) variant details
- p.Leu49Phe
- rs121918639
- ClinGen CA122754
- ClinVar RCV000013705
- ClinVar RCV001004905
- Uncertain significance
- Elliptocytosis 2; Hereditary spherocytosis type 2
- Missense
- ClinVar: Uncertain significance (Elliptocytosis 2; Hereditary spherocytosis type 2)
- EBI: Pathogenic (in EL2)
- UniProt: Pathogenic (in EL2)
- Cited in: Two elliptocytogenic alpha I/74 variants of the spectrin alpha I domain. Spectrin Culoz (GGT----GTT; alpha I 40… (PMID 2384601)
- Cited in: Spectrin Tunis (Sp alpha I/78), an elliptocytogenic variant, is due to the CGG----TGG codon change (Arg----Trp) at… (PMID 2568861)