Variant (rsID / SNP)

rs386833650

rs386833650 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PPT1. Location: chromosome 1, position 40,555,089. Clinical significance in the table: Pathogenic.

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Reference-table entries

PPT1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:40555089
Cytoband: 1p34.2
HGVS: NM_000310.4(PPT1):c.529C>G (p.Gln177Glu)
Allele change: Missense_Q177E

Associated conditions / phenotypes

Neuronal ceroid lipofuscinosis 1

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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