Variant (rsID / SNP)

rs137893343

rs137893343 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PNPT1. Location: chromosome 2, position 55,899,161. Clinical significance in the table: Uncertain significance.

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Reference-table entries

PNPT1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 2:55899161
Cytoband: 2p16.1
HGVS: NM_033109.5(PNPT1):c.887A>G (p.Tyr296Cys)
Allele change: Missense_Y296C

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.