G106C (p.Gly106Cys) variant of PIK3CA (P42336)
G106C (p.Gly106Cys) in PIK3CA (P42336) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Megalencephaly-capillary malformation-polymicrogyria syndrome. The record also includes structural context.
G106C (p.Gly106Cys) variant details
- p.Gly106Cys
- cosmic curated COSV55917
- Ensembl rs1057519931
- Likely pathogenic
- Megalencephaly-capillary malformation-polymicrogyria syndrome
- Missense
- ClinVar: Likely pathogenic (Megalencephaly-capillary malformation-polymicrogyria syndrome)
- EBI: Likely pathogenic (in CRC)
- UniProt: Likely pathogenic (in CRC)
- Structural context available