Variant (rsID / SNP)

rs137852503

rs137852503 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HPRT1. Clinical significance in the table: Uncertain significance.

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Reference-table entries

HPRT1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Cytoband: Xq26.2
HGVS: NM_000194.2(HPRT1):c.419G>A (p.Gly140Asp)
Allele change: Missense_G140D

Associated conditions / phenotypes

Lesch-Nyhan syndrome|HPRT TOKYO|Partial hypoxanthine-guanine phosphoribosyltransferase deficiency|Lesch-Nyhan syndrome

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.