rs386833706

This is a variant in the CLN3 gene that changes a serine to an leucine.

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ClinVar annotation

Uncertain Significance★☆☆☆
4 submitters3 publications

Neuronal ceroid lipofuscinosis; Retinitis pigmentosa (RP)

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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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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