Variant (rsID / SNP)
rs386833740
rs386833740 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CLN3. Location: chromosome 16, position 28,493,665. Clinical significance in the table: Pathogenic.
Reference-table entries
CLN3Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Duplication
- Chromosome / position
- 16:28493665
- Cytoband
- 16p12.1
- HGVS
- NM_001042432.2(CLN3):c.944dup (p.His315fs)
Associated conditions / phenotypes
Neuronal ceroid lipofuscinosis 3|Neuronal ceroid lipofuscinosis
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.