Variant (rsID / SNP)

rs148412181

rs148412181 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PPT1. Location: chromosome 1, position 40,546,155. 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: 1:40546155
Cytoband: 1p34.2
HGVS: NM_000310.4(PPT1):c.541G>T (p.Val181Leu)
Allele change: Missense_V181M

Associated conditions / phenotypes

Neuronal ceroid lipofuscinosis 1|Neuronal ceroid lipofuscinosis|Global developmental delay

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.