Variant (rsID / SNP)

rs104894453

rs104894453 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PNP. Location: chromosome 14, position 20,942,714. Clinical significance in the table: Uncertain significance.

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Reference-table entries

PNPUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 14:20942714
Cytoband: 14q11.2
HGVS: NM_000270.4(PNP):c.265G>A (p.Glu89Lys)
Allele change: Missense_E89K

Associated conditions / phenotypes

Purine-nucleoside phosphorylase deficiency

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.