A3R (p.Ala3Arg) variant of NF1 (Neurofibromin)
A3R (p.Ala3Arg) in NF1 (Neurofibromin) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
A3R (p.Ala3Arg) variant details
- p.Ala3Arg
- rs2143144314
- ClinGen CA2499223965
- ClinVar RCV001380139
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: Neurofibromatosis type 1 in genetic counseling practice: recommendations of the National Society of Genetic Counselors. (PMID 17636453)