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Variant (rsID / SNP)

rs386833661

PPT1

rs386833661 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PPT1. Location: chromosome 1, position 40,544,293. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

PPT1Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
1:40544293
Cytoband
1p34.2
HGVS
NM_000310.4(PPT1):c.665T>C (p.Leu222Pro)
Allele change
Missense_L222P

Associated conditions / phenotypes

Neuronal ceroid lipofuscinosis 1|Neuronal ceroid lipofuscinosis|Spastic ataxia

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.