ABCB4 c.3757C>T ;(p.H1253Y)

Variant ID: 7-87031495-G-A

NM_000443.3(ABCB4):c.3757C>T;(p.H1253Y)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS Consortium.

Scientific Reports
Popp, Bernt B; Krumbiegel, Mandy M; Grosch, Janina J; Sommer, Annika A; Uebe, Steffen S; Kohl, Zacharias Z; Plötz, Sonja S; Farrell, Michaela M; Trautmann, Udo U; Kraus, Cornelia C; Ekici, Arif B AB; Asadollahi, Reza R; Regensburger, Martin M; Günther, Katharina K; Rauch, Anita A; Edenhofer, Frank F; Winkler, Jürgen J; Winner, Beate B; Reis, André A
Publication Date: 2018-11-21

Variant appearance in text: ABCB4: 3757C>T; Gln1253*
PubMed Link: 30464253
Variant Present in the following documents:
  • 41598_2018_35506_MOESM5_ESM.xlsx, sheet 6
View BVdb publication page



A whole-genome sequence and transcriptome perspective on HER2-positive breast cancers.

Nature Communications
Ferrari, Anthony A; Vincent-Salomon, Anne A; Pivot, Xavier X; Sertier, Anne-Sophie AS; Thomas, Emilie E; Tonon, Laurie L; Boyault, Sandrine S; Mulugeta, Eskeatnaf E; Treilleux, Isabelle I; MacGrogan, Gaëtan G; Arnould, Laurent L; Kielbassa, Janice J; Le Texier, Vincent V; Blanché, Hélène H; Deleuze, Jean-François JF; Jacquemier, Jocelyne J; Mathieu, Marie-Christine MC; Penault-Llorca, Frédérique F; Bibeau, Frédéric F; Mariani, Odette O; Mannina, Cécile C; Pierga, Jean-Yves JY; Trédan, Olivier O; Bachelot, Thomas T; Bonnefoi, Hervé H; Romieu, Gilles G; Fumoleau, Pierre P; Delaloge, Suzette S; Rios, Maria M; Ferrero, Jean-Marc JM; Tarpin, Carole C; Bouteille, Catherine C; Calvo, Fabien F; Gut, Ivo Glynne IG; Gut, Marta M; Martin, Sancha S; Nik-Zainal, Serena S; Stratton, Michael R MR; Pauporté, Iris I; Saintigny, Pierre P; Birnbaum, Daniel D; Viari, Alain A; Thomas, Gilles G
Publication Date: 2016-07-13

Variant appearance in text: ABCB4: 3757C>T
PubMed Link: 27406316
Variant Present in the following documents:
  • ncomms12222-s3.xlsx, sheet 1
View BVdb publication page