Variant (rsID / SNP)

rs1049564

rs1049564 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PNP. Location: chromosome 14, position 20,940,606. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

PNPBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 14:20940606
Cytoband: 14q11.2
HGVS: NM_000270.4(PNP):c.151G>A (p.Gly51Ser)
Allele change: Missense_G51S

Associated conditions / phenotypes

NUCLEOSIDE PHOSPHORYLASE POLYMORPHISM|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.