N29S (p.Asn29Ser) variant of NF1 (Neurofibromin)
N29S (p.Asn29Ser) in NF1 (Neurofibromin) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes published literature and structural context.
N29S (p.Asn29Ser) variant details
- p.Asn29Ser
- rs2544680852
- ClinGen CA398988165
- ClinVar RCV003041493
- ClinVar RCV005375244
- Likely benign
- Missense
- EBI: Likely benign
- UniProt: Likely benign
- 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)