Variant (rsID / SNP)

rs137852490

rs137852490 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HPRT1. Clinical significance in the table: Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

HPRT1Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Cytoband: Xq26.3
HGVS: NM_000194.3(HPRT1):c.610C>G (p.His204Asp)
Allele change: Missense_H204D

Associated conditions / phenotypes

Lesch-Nyhan syndrome|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.