Variant (rsID / SNP)

rs386833694

rs386833694 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CLN3. Location: chromosome 16, position 28,493,482. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

CLN3Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 16:28493482
Cytoband: 16p12.1
HGVS: NM_001042432.2(CLN3):c.1000C>T (p.Arg334Cys)
Allele change: Missense_R256C

Associated conditions / phenotypes

Neuronal ceroid lipofuscinosis 3|Neuronal ceroid lipofuscinosis

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.