PMID: 17187437

Schneider G, Paus TC, Kullak-Ublick GA, Meier PJ, Wienker TF, Lang T, van de Vondel P, Sauerbruch T, Reichel C
Linkage between a new splicing site mutation in the MDR3 alias ABCB4 gene and intrahepatic cholestasis of pregnancy.
Hepatology. 2007 Jan;45(1):150-8., [PubMed]
Sentences
No. Mutations Sentence Comment
68 ABCB4 p.Arg652Gly
X
ABCB4 p.Arg652Gly 17187437:68:312
status: NEW
view ABCB4 p.Arg652Gly details
 MDR3 Genetic Variability in the Index Patient Variant DNA Position Nucleotide Reference Nucleotide Variant Effect c.-3335_-3336insAG* Prom A5 insAG n.a. c.-316A>T* Prom B6 A T n.a. c.345-50_-46 delGAAAA Intron 5 GAAAA del GAAAA n.a. c.504C>T Exon6 C T syn c.1231-81delT Intron11 del T n.a. c.1954A>G Exon 16 A G R652G c.2064؉55A>G Intron 16 A G n.a. c.2478؉40A>G* Intron 20 A G n.a. c.3486؉5G>A* Intron 26 G A splicing c.3634-72T>C Intron 27 T C n.a. NOTE. Login to comment