Variant (rsID / SNP)

rs137852482

rs137852482 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HPRT1. Clinical significance in the table: Pathogenic; other.

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Reference-table entries

HPRT1Pathogenic

Clinical significance (as recorded): Pathogenic; other
Variant type: single nucleotide variant
Cytoband: Xq26.2
HGVS: NM_000194.2(HPRT1):c.329C>T (p.Ser110Leu)
Allele change: Missense_S110L

Associated conditions / phenotypes

Partial hypoxanthine-guanine phosphoribosyltransferase deficiency|HPRT LONDON

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.