Case Report
Copyright ©The Author(s) 2023.
World J Clin Cases. Feb 26, 2023; 11(6): 1393-1402
Published online Feb 26, 2023. doi: 10.12998/wjcc.v11.i6.1393
Table 2 Results of whole-exon genetic testing for the genetic disorders
Gene
Chromosomal position
Basic variation information
Zygote type
Inheritance patterns
UGT1A1chr2:234669144NM_000463.3:c.211G>A (p.Gly71Arg)HomAR
chr2:234681059NM_000463.3:c.1456T>G (p.Tyr486Asp)HetAR
ABCB11chr2:169787353NM_003742.4:c.3233T>C (p.Ile1078Thr)HetAR
chr2:169869837NM_003742.4:c.334A>G (p.Ile112Val)HetAR