S7R (p.Ser7Arg) variant of CLN3 (Battenin)
S7R (p.Ser7Arg) in CLN3 (Battenin) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature.
S7R (p.Ser7Arg) variant details
- p.Ser7Arg
- rs2506530490
- ClinGen CA2580091425
- ClinVar RCV002815571
- ClinVar RCV003465838
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Cited in: Neuronal ceroid lipofuscinoses. (PMID 19084560)