Variant (rsID / SNP)

rs386833664

rs386833664 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PPT1. Location: chromosome 1, position 40,542,587. Clinical significance in the table: Pathogenic/Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

PPT1Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:40542587
Cytoband: 1p34.2
HGVS: NM_000310.4(PPT1):c.727-2A>T
Allele change: Silent

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.