Variant (rsID / SNP)
rs1713420
rs1713420 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PNP. Location: chromosome 14, position 20,942,744. Clinical significance in the table: Benign.
Reference-table entries
PNPBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 14:20942744
- Cytoband
- 14q11.2
- HGVS
- NM_000270.4(PNP):c.285+10A>G
- Allele change
- Silent
Associated conditions / phenotypes
Purine-nucleoside phosphorylase deficiency
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.