Variant (rsID / SNP)
rs149692285
rs149692285 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CLN6. Location: chromosome 15, position 68,504,005. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
CLN6Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 15:68504005
- Cytoband
- 15q23
- HGVS
- NM_017882.3(CLN6):c.486+8C>T
- Allele change
- Silent
Associated conditions / phenotypes
Neuronal ceroid lipofuscinosis|Ceroid lipofuscinosis, neuronal, 6A|Agenesis of the corpus callosum with peripheral neuropathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
