G693E (p.Gly693Glu) variant of ABCC2 (Q92887)
G693E (p.Gly693Glu) in ABCC2 (Q92887) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Dubin-Johnson syndrome.
G693E (p.Gly693Glu) variant details
- p.Gly693Glu
- rs2492926991
- ClinGen CA378114443
- ClinVar RCV003837780
- ClinVar RCV004723508
- Likely pathogenic
- not provided; Dubin-Johnson syndrome
- Missense
- ClinVar: Likely pathogenic (not provided; Dubin-Johnson syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic