Q85* (p.Gln85Ter) variant of PCDH19 (Protocadherin-19)
Q85* (p.Gln85Ter) in PCDH19 (Protocadherin-19) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
Q85* (p.Gln85Ter) variant details
- p.Gln85Ter
- rs132630324
- ClinGen CA121295
- ClinVar RCV000011764
- Ensembl rs132630324
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Epilepsy and mental retardation limited to females: an under-recognized disorder. (PMID 18234694)
- Cited in: X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment. (PMID 18469813)