Variant (rsID / SNP)

rs72937434

rs72937434 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PPT1. Location: chromosome 1, position 40,539,817. 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: 1:40539817
Cytoband: 1p34.2
HGVS: NM_000310.4(PPT1):c.837G>C (p.Gln279His)
Allele change: Missense_Q279H

Associated conditions / phenotypes

History of neurodevelopmental disorder|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.