Variant (rsID / SNP)
rs755445790
rs755445790 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TPP1. Location: chromosome 11, position 6,637,744. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
TPP1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:6637744
- Cytoband
- 11p15.4
- HGVS
- NM_000391.4(TPP1):c.887-10A>G
- Allele change
- Silent
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.
