Variant (rsID / SNP)

rs118163237

rs118163237 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to UPB1. Location: chromosome 22, position 24,919,647. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

UPB1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 22:24919647
Cytoband: 22q11.23
HGVS: NM_016327.3(UPB1):c.977G>A (p.Arg326Gln)
Allele change: Missense_R326Q

Associated conditions / phenotypes

Deficiency of beta-ureidopropionase

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.