Skip to main content

Table 3 Screening for mutations in the NR1H4 gene in 197 pregnant women with ICP disease

From: Identification of two novel pathogenic variants of the NR1H4 gene in intrahepatic cholestasis of pregnancy patients

Exon Patient SNP Chr Position Alleles Protein change SIFT PolyPhen2 MAF in controls 1000G_ALL ExAC ChinaMAP P1 P2 P3
Exon2 ICP127 Novel-1 12 100904880 C/T Ser145Phe 0 (D) 0.999 (D) 0/(1029*2) Not present Not present 0 – – 0.018
Exon3 ICP53 Novel-2 12 100926313 A/T Met185Leu 0.005 (D) 0.981 (D) 0/(1029*2) Not present Not present 0 – – 0.018
Exon4 ICP12 rs180957965 12 100928727 G/T Ala230Ser 0.815 (T) 0.015 (T) 0/(1029*2) 0.00080 0.00018 0.0029 0.17 0.036 0.44
Exon5 ICP1,69,107 rs147030757 12 100930352 C/T Asn275Asn – – 0/(1029*2) 0.001 0.00022 0.0057 0.0027 1.63e−05 0.11
  1. Significant differences were underlined
  2. P1 the significance of differences in frequencies between 197 ICP patients and 1000G_ALL, P2 the significance of differences in frequencies between 197 ICP patients and ExAC, P3 the significance of differences in frequencies between 197 ICP patients and ChinaMAP
Back to article page

BMC Medical Genomics

ISSN: 1755-8794

Contact us