S18* (p.Ser18Ter) variant of GJA1 (Gap junction alpha-1 protein)
S18* (p.Ser18Ter) in GJA1 (Gap junction alpha-1 protein) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in ODDD. The record also includes structural context.
S18* (p.Ser18Ter) variant details
- p.Ser18Ter
- rs1773898086
- ClinGen CA365557819
- ClinVar RCV001210770
- Ensembl rs1773898086
- Pathogenic
- in ODDD
- Stop Gained
- EBI: Pathogenic (in ODDD)
- UniProt: Pathogenic (in ODDD)
- Structural context available