rs386833703

This is a variant in the CLN3 gene that changes a aspartate to an glycine.

▶

ClinVar annotation

Pathogenic★☆☆☆

3 submitters7 publications

Neuronal ceroid lipofuscinosis; Neuronal ceroid lipofuscinosis 3 (CLN3)

About CLN3

This gene encodes a protein that is involved in lysosomal function. Mutations in this, as well as other neuronal ceroid-lipofuscinosis (CLN) genes, cause neurodegenerative diseases commonly known as Batten disease or collectively known as neuronal ceroid lipofuscinoses (NCLs). Many alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]

View all CLN3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Loading comments…