Variant (rsID / SNP)

rs137852495

rs137852495 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HPRT1. Clinical significance in the table: Pathogenic; other.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

HPRT1Pathogenic

Clinical significance (as recorded): Pathogenic; other
Variant type: single nucleotide variant
Cytoband: Xq26.2
HGVS: NM_000194.2(HPRT1):c.170T>C (p.Met57Thr)
Allele change: Missense_M57T

Associated conditions / phenotypes

Lesch-nyhan syndrome, neurologic variant|HPRT MONTREAL|HPRT1-Related Disorder

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.