Variant (rsID / SNP)
rs121908202
rs121908202 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TPP1. Location: chromosome 11, position 6,636,403. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
TPP1Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:6636403
- Cytoband
- 11p15.4
- HGVS
- NM_000391.4(TPP1):c.1424C>T (p.Ser475Leu)
- Allele change
- Missense_S475L
Associated conditions / phenotypes
Neuronal ceroid lipofuscinosis 2
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.