SLCO1B1 c.1747+1G>A

Variant ID: 12-21375299-G-A

NM_006446.4(SLCO1B1):c.1747+1G>A

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Loss of organic anion transporting polypeptide 1B3 function causes marked delay in indocyanine green clearance without any clinical symptoms.

Hepatology (Baltimore, Md.)
Kagawa, Tatehiro T; Adachi, Yukihiko Y; Hashimoto, Naoaki N; Mitsui, Hiroshi H; Ohashi, Tomohiko T; Yoneda, Masashi M; Hasegawa, Izumi I; Hirose, Shunji S; Tsuruya, Kota K; Anzai, Kazuya K; Mine, Tetsuya T
Publication Date: 2017-03

Variant appearance in text: SLCO1B1: 1747+1G>A
PubMed Link: 27863442
Variant Present in the following documents:
  • Main text
View BVdb publication page



Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver.

The Journal Of Clinical Investigation
van de Steeg, Evita E; Stránecký, Viktor V; Hartmannová, Hana H; Nosková, Lenka L; Hřebíček, Martin M; Wagenaar, Els E; van Esch, Anita A; de Waart, Dirk R DR; Oude Elferink, Ronald P J RP; Kenworthy, Kathryn E KE; Sticová, Eva E; al-Edreesi, Mohammad M; Knisely, A S AS; Kmoch, Stanislav S; Jirsa, Milan M; Schinkel, Alfred H AH
Publication Date: 2012-02

Variant appearance in text:
PubMed Link: 22232210
Variant Present in the following documents:
  • Main text
View BVdb publication page