Variant (rsID / SNP)
rs119455954
rs119455954 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TPP1. Location: chromosome 11, position 6,637,287. 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
- 11:6637287
- Cytoband
- 11p15.4
- HGVS
- NM_000391.4(TPP1):c.1094G>A (p.Cys365Tyr)
- Allele change
- Missense_C365Y
Associated conditions / phenotypes
Neuronal ceroid lipofuscinosis 2|Neuronal ceroid lipofuscinosis
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.