CLN3 Chromosome 16
CLN3 lysosomal/endosomal transmembrane protein, battenin
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What This Gene Does
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]
Gene Info
Gene Group
Solute carrier family 29
Locus Type
gene with protein product
Location
16p12.1
Ensembl
ENSG00000188603
Associated Conditions (21)
Neuronal ceroid lipofuscinosis
Inborn genetic diseases
Neuronal ceroid lipofuscinosis 3
Progressive myoclonic epilepsy type 3
CLN3-related disorder
Retinitis pigmentosa
Sarcoma
Retinal dystrophy
Ceroid lipofuscinosis
neuronal
3
protracted
Thyroid cancer
nonmedullary
1
Ovarian serous cystadenocarcinoma
early onset and severe retinal dystrophy
Malignant tumor of urinary bladder
Juvenile neuronal ceroid lipofuscinosis
Clear cell carcinoma of kidney
+1 more conditions
Key Variants
RS1006236175
Conflicting classifications of pathogenicity
Neuronal ceroid lipofuscinosis, Inborn genetic diseases, Neuronal ceroid lipofuscinosis
Health Risk
RS1142183
Conflicting classifications of pathogenicity
Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 3, Inborn genetic diseases
Health Risk
RS1216521924
Conflicting classifications of pathogenicity
Neuronal ceroid lipofuscinosis, Inborn genetic diseases, Neuronal ceroid lipofuscinosis 3
Health Risk
RS137906617
Conflicting classifications of pathogenicity
Progressive myoclonic epilepsy type 3, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 3
Health Risk
RS141305257
Conflicting classifications of pathogenicity
Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis 3
Health Risk
RS145270402
Conflicting classifications of pathogenicity
Neuronal ceroid lipofuscinosis, Inborn genetic diseases, Neuronal ceroid lipofuscinosis
Health Risk
RS145967477
Conflicting classifications of pathogenicity
Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 3, Inborn genetic diseases
Health Risk
RS147667964
Conflicting classifications of pathogenicity
Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis
Health Risk
RS148846795
Conflicting classifications of pathogenicity
Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 3, Inborn genetic diseases
Health Risk
RS150348015
Conflicting classifications of pathogenicity
Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 3, Inborn genetic diseases
Health Risk
RS1555468695
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Neuronal ceroid lipofuscinosis, Retinitis pigmentosa
Health Risk
RS187163584
Conflicting classifications of pathogenicity
Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis 3
Health Risk
All Variants (202)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1006236175 | Health Risk | Conflicting classifications of pathogenicity | Neuronal ceroid lipofuscinosis, Inborn genetic diseases, Neuronal ceroid lipofuscinosis |
| RS1142183 | Health Risk | Conflicting classifications of pathogenicity | Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 3, Inborn genetic diseases |
| RS1216521924 | Health Risk | Conflicting classifications of pathogenicity | Neuronal ceroid lipofuscinosis, Inborn genetic diseases, Neuronal ceroid lipofuscinosis 3 |
| RS137906617 | Health Risk | Conflicting classifications of pathogenicity | Progressive myoclonic epilepsy type 3, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 3 |
| RS141305257 | Health Risk | Conflicting classifications of pathogenicity | Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis 3 |
| RS145270402 | Health Risk | Conflicting classifications of pathogenicity | Neuronal ceroid lipofuscinosis, Inborn genetic diseases, Neuronal ceroid lipofuscinosis |
| RS145967477 | Health Risk | Conflicting classifications of pathogenicity | Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 3, Inborn genetic diseases |
| RS147667964 | Health Risk | Conflicting classifications of pathogenicity | Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis |
| RS148846795 | Health Risk | Conflicting classifications of pathogenicity | Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 3, Inborn genetic diseases |
| RS150348015 | Health Risk | Conflicting classifications of pathogenicity | Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 3, Inborn genetic diseases |
| RS1555468695 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Neuronal ceroid lipofuscinosis, Retinitis pigmentosa |
| RS187163584 | Health Risk | Conflicting classifications of pathogenicity | Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis 3 |
| RS201168980 | Health Risk | Conflicting classifications of pathogenicity | Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis |
| RS201206239 | Health Risk | Conflicting classifications of pathogenicity | Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis, Inborn genetic diseases |
| RS201225986 | Health Risk | Conflicting classifications of pathogenicity | Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 3, Sarcoma |
| RS2046117159 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Neuronal ceroid lipofuscinosis, Retinal dystrophy |
| RS368568189 | Health Risk | Conflicting classifications of pathogenicity | Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis |
| RS369008702 | Health Risk | Conflicting classifications of pathogenicity | Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis |
| RS370217726 | Health Risk | Conflicting classifications of pathogenicity | Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis 3 |
| RS373034150 | Health Risk | Conflicting classifications of pathogenicity | Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis, Inborn genetic diseases |
| RS376478363 | Health Risk | Conflicting classifications of pathogenicity | Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 3 |
| RS376590377 | Health Risk | Conflicting classifications of pathogenicity | Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis |
| RS377369610 | Health Risk | Conflicting classifications of pathogenicity | Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis |
| RS386833727 | Health Risk | Conflicting classifications of pathogenicity | Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis 3 |
| RS386833731 | Health Risk | Conflicting classifications of pathogenicity | Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis |
| RS386833738 | Health Risk | Conflicting classifications of pathogenicity | Neuronal ceroid lipofuscinosis 3, Ceroid lipofuscinosis, neuronal |
| RS561083322 | Health Risk | Conflicting classifications of pathogenicity | Neuronal ceroid lipofuscinosis, Thyroid cancer, nonmedullary |
| RS748293490 | Health Risk | Conflicting classifications of pathogenicity | Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis |
| RS756848924 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis |
| RS764999720 | Health Risk | Conflicting classifications of pathogenicity | Neuronal ceroid lipofuscinosis, CLN3-related disorder, Neuronal ceroid lipofuscinosis |
| RS770136863 | Health Risk | Conflicting classifications of pathogenicity | Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis |
| RS772274552 | Health Risk | Conflicting classifications of pathogenicity | Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 3 |
| RS773692029 | Health Risk | Conflicting classifications of pathogenicity | Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 3 |
| RS775577824 | Health Risk | Conflicting classifications of pathogenicity | Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis |
| RS775739498 | Health Risk | Conflicting classifications of pathogenicity | Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis |
| RS777383109 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 3 |
| RS779304920 | Health Risk | Conflicting classifications of pathogenicity | Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis |
| RS794727850 | Health Risk | Conflicting classifications of pathogenicity | Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis |
| RS796052336 | Health Risk | Conflicting classifications of pathogenicity | Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis |
| RS796052338 | Health Risk | Conflicting classifications of pathogenicity | Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis, early onset and severe retinal dystrophy |
| RS942972881 | Health Risk | Conflicting classifications of pathogenicity | Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 3 |
| RS1057516267 | Health Risk | Likely pathogenic | Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis 3 |
| RS1057516343 | Health Risk | Likely pathogenic | Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 3 |
| RS1057517215 | Health Risk | Likely pathogenic | Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis 3 |
| RS1057517287 | Health Risk | Likely pathogenic | Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis 3 |
| RS1057517350 | Health Risk | Likely pathogenic | Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis 3 |
| RS1064796502 | Health Risk | Likely pathogenic | — |
| RS1183257496 | Health Risk | Likely pathogenic | Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis 3 |
| RS1217725909 | Health Risk | Likely pathogenic | Neuronal ceroid lipofuscinosis, Inborn genetic diseases, Neuronal ceroid lipofuscinosis |
| RS1218568487 | Health Risk | Likely pathogenic | Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis |