Variant (rsID / SNP)

rs369065223

rs369065223 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HPRT1. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

HPRT1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xq26.2
HGVS: NM_000194.3(HPRT1):c.368C>G (p.Ser123Ter)
Allele change: Missense_S123L

Associated conditions / phenotypes

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.