G38R (p.Gly38Arg) variant of KCNQ2 (O43526)
G38R (p.Gly38Arg) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Autism spectrum disorder. The record also includes published literature and structural context.
G38R (p.Gly38Arg) variant details
- p.Gly38Arg
- rs2516745816
- ClinGen CA409635671
- ClinVar RCV003128017
- Likely benign
- Autism spectrum disorder
- Missense
- ClinVar: Likely benign (Autism spectrum disorder)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Cited in: American College of Medical Genetics guideline on the cytogenetic evaluation of the individual with developmental delay… (PMID 16301868)
- Cited in: Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental… (PMID 20466091)