rs772463617
This variant is located in the CLN3 gene.
▶ClinVar annotation
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.
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