Variant (rsID / SNP)
rs56144125
rs56144125 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TPP1. Location: chromosome 11, position 6,638,385. Clinical significance in the table: Pathogenic.
Reference-table entries
TPP1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:6638385
- Cytoband
- 11p15.4
- HGVS
- NM_000391.4(TPP1):c.509-1G>C
- Allele change
- Silent
Associated conditions / phenotypes
Neuronal ceroid lipofuscinosis 2|Autosomal recessive spinocerebellar ataxia 7|Inborn genetic diseases|Neuronal ceroid lipofuscinosis|Autosomal recessive spinocerebellar ataxia 7|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.