N48I (p.Asn48Ile) variant of CLN3 (Battenin)
N48I (p.Asn48Ile) in CLN3 (Battenin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Neuronal ceroid lipofuscinosis. The record also includes published literature and structural context.
N48I (p.Asn48Ile) variant details
- p.Asn48Ile
- rs2506508693
- ClinGen CA395346548
- ClinVar RCV003036446
- Uncertain significance
- Neuronal ceroid lipofuscinosis
- Missense
- ClinVar: Uncertain significance (Neuronal ceroid lipofuscinosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Neuronal ceroid lipofuscinoses. (PMID 19084560)