G35V (p.Gly35Val) variant of ALK (ALK tyrosine kinase receptor)
G35V (p.Gly35Val) in ALK (ALK tyrosine kinase receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Neuroblastoma, susceptibility to, 3; Hereditary cancer-predisposing syndrome. The record also includes variant effect predictions, published literature, and structural context.
G35V (p.Gly35Val) variant details
- p.Gly35Val
- rs766479433
- ClinGen CA346590686
- ClinVar RCV003634363
- ClinVar RCV005856557
- Uncertain significance
- Neuroblastoma, susceptibility to, 3; Hereditary cancer-predisposing syndrome
- Missense
- MutPred 0.20
- ClinVar: Uncertain significance (Neuroblastoma, susceptibility to, 3; Hereditary cancer-predispos)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: ALK-Related Neuroblastic Tumor Susceptibility. (PMID 20301782)