SI c.300del ;(p.S101Lfs*19)

Variant ID: 3-164786939-AG-A

NM_001041.3(SI):c.300del;(p.S101Lfs*19)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6.

American Journal Of Human Genetics
Zariwala, Maimoona A MA; Gee, Heon Yung HY; Kurkowiak, Małgorzata M; Al-Mutairi, Dalal A DA; Leigh, Margaret W MW; Hurd, Toby W TW; Hjeij, Rim R; Dell, Sharon D SD; Chaki, Moumita M; Dougherty, Gerard W GW; Adan, Mohamed M; Spear, Philip C PC; Esteve-Rudd, Julian J; Loges, Niki T NT; Rosenfeld, Margaret M; Diaz, Katrina A KA; Olbrich, Heike H; Wolf, Whitney E WE; Sheridan, Eamonn E; Batten, Trevor F C TF; Halbritter, Jan J; Porath, Jonathan D JD; Kohl, Stefan S; Lovric, Svjetlana S; Hwang, Daw-Yang DY; Pittman, Jessica E JE; Burns, Kimberlie A KA; Ferkol, Thomas W TW; Sagel, Scott D SD; Olivier, Kenneth N KN; Morgan, Lucy C LC; Werner, Claudius C; Raidt, Johanna J; Pennekamp, Petra P; Sun, Zhaoxia Z; Zhou, Weibin W; Airik, Rannar R; Natarajan, Sivakumar S; Allen, Susan J SJ; Amirav, Israel I; Wieczorek, Dagmar D; Landwehr, Kerstin K; Nielsen, Kim K; Schwerk, Nicolaus N; Sertic, Jadranka J; Köhler, Gabriele G; Washburn, Joseph J; Levy, Shawn S; Fan, Shuling S; Koerner-Rettberg, Cordula C; Amselem, Serge S; Williams, David S DS; Mitchell, Brian J BJ; Drummond, Iain A IA; Otto, Edgar A EA; Omran, Heymut H; Knowles, Michael R MR; Hildebrandt, Friedhelm F
Publication Date: 2013-08-08

Variant appearance in text: SI: 300delC
PubMed Link: 23891469
Variant Present in the following documents:
  • Main text
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