V72G (p.Val72Gly) variant of PCDH19 (Protocadherin-19)
V72G (p.Val72Gly) in PCDH19 (Protocadherin-19) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Developmental and epileptic encephalopathy, 9. The record also includes published literature and structural context.
V72G (p.Val72Gly) variant details
- p.Val72Gly
- UniProt VAR 067473
- Conflicting interpretations
- not provided; Developmental and epileptic encephalopathy, 9
- Missense
- ClinVar: Conflicting classifications of pathogenicity (not provided; Developmental and epileptic encephalopathy, 9)
- EBI: Pathogenic (in DEE9)
- UniProt: Pathogenic (in DEE9)
- Structural context available
- Cited in: PCDH19 mutation in Japanese females with epilepsy. (PMID 22050978)
- Cited in: X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment. (PMID 18469813)