Variant (rsID / SNP)

rs7594497

rs7594497 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PNPT1. Location: chromosome 2, position 55,872,538. Clinical significance in the table: Benign.

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Reference-table entries

PNPT1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:55872538
Cytoband: 2p16.1
HGVS: NM_033109.5(PNPT1):c.1768A>G (p.Asn590Asp)
Allele change: Missense_N590D

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.