Q25R (p.Gln25Arg) variant of HRAS (GTPase HRas)
Q25R (p.Gln25Arg) in HRAS (GTPase HRas) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Costello syndrome. The record also includes published literature and structural context.
Q25R (p.Gln25Arg) variant details
- p.Gln25Arg
- rs2539802400
- ClinGen CA378925198
- ClinVar RCV003828868
- Uncertain significance
- Costello syndrome
- Missense
- ClinVar: Uncertain significance (Costello syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: HRAS-Related Costello Syndrome. (PMID 20301680)
- Cited in: 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and… (PMID 25173338)