G1200S (p.Gly1200Ser) variant of ABCC6 (O95255)
G1200S (p.Gly1200Ser) in ABCC6 (O95255) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autosomal recessive inherited pseudoxanthoma elasticum. The record also includes published literature and structural context.
G1200S (p.Gly1200Ser) variant details
- p.Gly1200Ser
- rs2510960594
- ClinGen CA394879768
- ClinVar RCV003990596
- Likely pathogenic
- Autosomal recessive inherited pseudoxanthoma elasticum
- Missense
- ClinVar: Likely pathogenic (Autosomal recessive inherited pseudoxanthoma elasticum)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Pseudoxanthoma Elasticum. (PMID 20301292)