Variant (rsID / SNP)

rs1800205

rs1800205 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PPT1. Location: chromosome 1, position 40,557,033. Clinical significance in the table: Benign.

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Reference-table entries

PPT1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 1:40557033
Cytoband: 1p34.2
HGVS: NM_000310.4(PPT1):c.401T>C (p.Ile134Thr)
Allele change: Missense_I134T

Associated conditions / phenotypes

Neuronal ceroid lipofuscinosis 1|History of neurodevelopmental disorder

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.