RS138872001 UPB1

Health Risk Chr 22:24502206 snv missense variant

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Associated Conditions

Deficiency of beta-ureidopropionase

ClinVar Assertions (2)

NM_016327.3(UPB1):c.358G>T (p.Ala120Ser)

· 4 submitters

NM_016327.3(UPB1):c.358G>T (p.Ala120Ser)

· 4 submitters

Population Frequencies

gnomAD ALL

100%

1kG AFR

99.6%

1kG ALL

0.1%

1kG AMR

99.9%

1kG EAS

100%

1kG EUR

100%

1kG SAS

100%

Other Variants in UPB1