M1I (p.Met1Ile) variant of CLN3 (Battenin)
M1I (p.Met1Ile) in CLN3 (Battenin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Juvenile neuronal ceroid lipofuscinosis; Neuronal ceroid lipofuscinosis. The record also includes published literature.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs2506530720
- ClinGen CA395347587
- ClinVar RCV003648137
- Pathogenic/Likely pathogenic
- Juvenile neuronal ceroid lipofuscinosis; Neuronal ceroid lipofuscinosis
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Juvenile neuronal ceroid lipofuscinosis; Neuronal ceroid lipofus)
- EBI: Pathogenic
- UniProt: Pathogenic
- Cited in: Neuronal ceroid lipofuscinoses. (PMID 19084560)