Variant (rsID / SNP)

rs398122996

rs398122996 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TPMT. Location: chromosome 6, position 18,130,989. The table records no clinical significance for this variant.

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Reference-table entries

TPMTNot classified

Variant type: single nucleotide variant
Chromosome / position: 6:18130989
Cytoband: 6p22.3
HGVS: NM_000367.5(TPMT):c.648T>A (p.Cys216Ter)
Allele change: Nonsense_C216X

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.