Variant (rsID / SNP)

rs1079375

rs1079375 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PNP. Location: chromosome 14, position 20,946,151. Clinical significance in the table: Benign.

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Reference-table entries

PNPBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 14:20946151
Cytoband: 14q11.2
HGVS: NM_000270.3(PNP):c.*1391T>C
Allele change: Silent

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.