Variant (rsID / SNP)
rs11552531
rs11552531 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CLN3. Location: chromosome 16, position 28,499,044. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
CLN3Benign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 16:28499044
- Cytoband
- 16p12.1
- HGVS
- NM_001042432.2(CLN3):c.313A>G (p.Ile105Val)
- Allele change
- Missense_I27V
Associated conditions / phenotypes
Neuronal ceroid lipofuscinosis|Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive|Seizure|Neuronal ceroid lipofuscinosis 3
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.