K40* (p.Lys40Ter) variant of NF2 (Merlin)
K40* (p.Lys40Ter) in NF2 (Merlin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
K40* (p.Lys40Ter) variant details
- p.Lys40Ter
- rs2146851519
- ClinGen CA411152414
- ClinVar RCV003608427
- Ensembl rs2146851519
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)