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Variant (rsID / SNP)

rs137852700

PPT1

rs137852700 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PPT1. Location: chromosome 1, position 40,555,167. 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
1:40555167
Cytoband
1p34.2
HGVS
NM_000310.4(PPT1):c.451C>T (p.Arg151Ter)
Allele change
Missense_R151G

Associated conditions / phenotypes

Neuronal ceroid lipofuscinosis 1|Neuronal Ceroid-Lipofuscinosis, Recessive|Neuronal ceroid lipofuscinosis|History of neurodevelopmental disorder

Public references

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