G610Q (p.Gly610Gln) variant of ELN (Elastin)
G610Q (p.Gly610Gln) in ELN (Elastin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Supravalvar aortic stenosis; not provided. The record also includes published literature and structural context.
G610Q (p.Gly610Gln) variant details
- p.Gly610Gln
- rs2132323982
- ClinGen CA2499219011
- ClinVar RCV000018217
- ClinVar RCV001561045
- Conflicting interpretations
- Supravalvar aortic stenosis; not provided
- Missense
- ClinVar: Conflicting classifications of pathogenicity (Supravalvar aortic stenosis; not provided)
- EBI: Pathogenic (in dbSNP:rs17855988)
- UniProt: Pathogenic (in dbSNP:rs17855988)
- Structural context available
- Cited in: Supravalvular aortic stenosis: genetic and molecular dissection of a complex mutation in the elastin gene. (PMID 11735026)