Variant (rsID / SNP)
rs117942457
rs117942457 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TPP1. Location: chromosome 11, position 6,636,154. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
TPP1Benign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:6636154
- Cytoband
- 11p15.4
- HGVS
- NM_000391.4(TPP1):c.1494C>T (p.Pro498=)
- Allele change
- Synonymous_P498P
Associated conditions / phenotypes
Neuronal ceroid lipofuscinosis 2|Seizure
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.