Case Report
Copyright ©The Author(s) 2023.
World J Clin Cases. Sep 16, 2023; 11(26): 6252-6261
Published online Sep 16, 2023. doi: 10.12998/wjcc.v11.i26.6252
Table 4 Variants with pharmacogenetic relevance gene UDP glucuronosyltransferase family 1 member A1
Item
Description
GeneUGT1A1
Functional categoryUpstream_gene
Variantc.-41_-40dupAT;p.?(*28/*28)
Transcript-IDNM_000463.3
Zygosity in germlineHomozygous
Effect on protein functionInactivating
Therapeutic optionTopoisomerase inhibitor
PhenotypePoor metabolizer