T25N (p.Thr25Asn) variant of NF1 (Neurofibromin)
T25N (p.Thr25Asn) 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.
T25N (p.Thr25Asn) variant details
- p.Thr25Asn
- rs2143625205
- ClinGen CA2573153516
- ClinVar RCV002037851
- ClinVar RCV002361296
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)