Variant (rsID / SNP)

rs104894454

rs104894454 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PNP. Location: chromosome 14, position 20,943,279. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

PNPUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 14:20943279
Cytoband: 14q11.2
HGVS: NM_000270.4(PNP):c.520G>C (p.Ala174Pro)
Allele change: Missense_A174P

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.