Variant (rsID / SNP)
rs886041487
rs886041487 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TPP1. Location: chromosome 11, position 6,637,682. Clinical significance in the table: Pathogenic.
Reference-table entries
TPP1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Deletion
- Chromosome / position
- 11:6637682
- Cytoband
- 11p15.4
- HGVS
- NM_000391.4(TPP1):c.938_939del (p.Asn313fs)
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.