Variant (rsID / SNP)

rs104894508

rs104894508 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to APRT. Location: chromosome 16, position 88,876,549. Clinical significance in the table: Pathogenic.

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Reference-table entries

APRTPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 16:88876549
Cytoband: 16q24.3
HGVS: NM_000485.3(APRT):c.329T>C (p.Leu110Pro)
Allele change: Missense_L110P

Associated conditions / phenotypes

Adenine phosphoribosyltransferase deficiency

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.