Variant (rsID / SNP)

rs104894451

rs104894451 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PNP. Location: chromosome 14, position 20,944,591. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

PNPPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 14:20944591
Cytoband: 14q11.2
HGVS: NM_000270.4(PNP):c.701G>C (p.Arg234Pro)
Allele change: Missense_R234P

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.