Variant (rsID / SNP)

rs137852488

rs137852488 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: Xq26.2
HGVS: NM_000194.2(HPRT1):c.211G>C (p.Gly71Arg)
Allele change: Missense_G71R

Associated conditions / phenotypes

HPRT YALE|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.