Variant (rsID / SNP)
rs386833964
rs386833964 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CLN5. Location: chromosome 13, position 77,574,949. Clinical significance in the table: Pathogenic.
Reference-table entries
CLN5Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Microsatellite
- Chromosome / position
- 13:77574949
- Cytoband
- 13q22.3
- HGVS
- NM_006493.4(CLN5):c.924_925del (p.Leu309fs)
Associated conditions / phenotypes
Neuronal ceroid lipofuscinosis 5|Neuronal ceroid lipofuscinosis
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.