L1978P (p.Leu1978Pro) variant of NF1 (Neurofibromin)
L1978P (p.Leu1978Pro) in NF1 (Neurofibromin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Neurofibromatosis, type 1. The record also includes published literature and structural context.
L1978P (p.Leu1978Pro) variant details
- p.Leu1978Pro
- rs2508737114
- ClinGen CA2739267485
- ClinVar RCV003599263
- Pathogenic
- Neurofibromatosis, type 1
- Missense
- ClinVar: Pathogenic (Neurofibromatosis, type 1)
- 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)