R8C (p.Arg8Cys) variant of NF2 (Merlin)
R8C (p.Arg8Cys) in NF2 (Merlin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Neurofibromatosis, type 2. The record also includes published literature and structural context.
R8C (p.Arg8Cys) variant details
- p.Arg8Cys
- rs868416935
- ClinGen CA411145791
- ClinVar RCV001339071
- TOPMed rs868416935
- Uncertain significance
- Neurofibromatosis, type 2
- Missense
- ClinVar: Uncertain significance (Neurofibromatosis, type 2)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Cited in: NF2-Related Schwannomatosis. (PMID 20301380)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)