L7C (p.Leu7Cys) variant of ALK (ALK tyrosine kinase receptor)
L7C (p.Leu7Cys) in ALK (ALK tyrosine kinase receptor) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes published literature and structural context.
L7C (p.Leu7Cys) variant details
- p.Leu7Cys
- rs770612152
- ClinGen CA1595075
- ClinVar RCV002914472
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: ALK-Related Neuroblastic Tumor Susceptibility. (PMID 20301782)