Variant (rsID / SNP)

rs386833646

rs386833646 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PPT1. Location: chromosome 1, position 40,557,021. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PPT1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 1:40557021
Cytoband: 1p34.2
HGVS: NM_000310.4(PPT1):c.413C>T (p.Ser138Leu)
Allele change: Missense_S138L

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.