Q31* (p.Gln31Ter) variant of FBN2 (Fibrillin-2)
Q31* (p.Gln31Ter) in FBN2 (Fibrillin-2) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes published literature and structural context.
Q31* (p.Gln31Ter) variant details
- p.Gln31Ter
- rs2479828044
- ClinGen CA360762952
- ClinVar RCV002289363
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Congenital Contractural Arachnodactyly. (PMID 20301560)
- Cited in: Evaluation of the adolescent or adult with some features of Marfan syndrome. (PMID 22237449)