Variant (rsID / SNP)

rs35405862

rs35405862 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PNPT1. Location: chromosome 2, position 55,898,486. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

PNPT1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 2:55898486
Cytoband: 2p16.1
HGVS: NM_033109.5(PNPT1):c.944A>G (p.Lys315Arg)
Allele change: Missense_K315R

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.