DMD c.3432+1266T>A

Variant ID: X-32480290-A-T

NM_004006.2(DMD):c.3432+1266T>A

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Individual common variants exert weak effects on the risk for autism spectrum disorders.

Human Molecular Genetics
Anney, Richard R; Klei, Lambertus L; Pinto, Dalila D; Almeida, Joana J; Bacchelli, Elena E; Baird, Gillian G; Bolshakova, Nadia N; Bölte, Sven S; Bolton, Patrick F PF; Bourgeron, Thomas T; Brennan, Sean S; Brian, Jessica J; Casey, Jillian J; Conroy, Judith J; Correia, Catarina C; Corsello, Christina C; Crawford, Emily L EL; de Jonge, Maretha M; Delorme, Richard R; Duketis, Eftichia E; Duque, Frederico F; Estes, Annette A; Farrar, Penny P; Fernandez, Bridget A BA; Folstein, Susan E SE; Fombonne, Eric E; Gilbert, John J; Gillberg, Christopher C; Glessner, Joseph T JT; Green, Andrew A; Green, Jonathan J; Guter, Stephen J SJ; Heron, Elizabeth A EA; Holt, Richard R; Howe, Jennifer L JL; Hughes, Gillian G; Hus, Vanessa V; Igliozzi, Roberta R; Jacob, Suma S; Kenny, Graham P GP; Kim, Cecilia C; Kolevzon, Alexander A; Kustanovich, Vlad V; Lajonchere, Clara M CM; Lamb, Janine A JA; Law-Smith, Miriam M; Leboyer, Marion M; Le Couteur, Ann A; Leventhal, Bennett L BL; Liu, Xiao-Qing XQ; Lombard, Frances F; Lord, Catherine C; Lotspeich, Linda L; Lund, Sabata C SC; Magalhaes, Tiago R TR; Mantoulan, Carine C; McDougle, Christopher J CJ; Melhem, Nadine M NM; Merikangas, Alison A; Minshew, Nancy J NJ; Mirza, Ghazala K GK; Munson, Jeff J; Noakes, Carolyn C; Nygren, Gudrun G; Papanikolaou, Katerina K; Pagnamenta, Alistair T AT; Parrini, Barbara B; Paton, Tara T; Pickles, Andrew A; Posey, David J DJ; Poustka, Fritz F; Ragoussis, Jiannis J; Regan, Regina R; Roberts, Wendy W; Roeder, Kathryn K; Roge, Bernadette B; Rutter, Michael L ML; Schlitt, Sabine S; Shah, Naisha N; Sheffield, Val C VC; Soorya, Latha L; Sousa, Inês I; Stoppioni, Vera V; Sykes, Nuala N; Tancredi, Raffaella R; Thompson, Ann P AP; Thomson, Susanne S; Tryfon, Ana A; Tsiantis, John J; Van Engeland, Herman H; Vincent, John B JB; Volkmar, Fred F; Vorstman, J A S JA; Wallace, Simon S; Wing, Kirsty K; Wittemeyer, Kerstin K; Wood, Shawn S; Zurawiecki, Danielle D; Zwaigenbaum, Lonnie L; Bailey, Anthony J AJ; Battaglia, Agatino A; Cantor, Rita M RM; Coon, Hilary H; Cuccaro, Michael L ML; Dawson, Geraldine G; Ennis, Sean S; Freitag, Christine M CM; Geschwind, Daniel H DH; Haines, Jonathan L JL; Klauck, Sabine M SM; McMahon, William M WM; Maestrini, Elena E; Miller, Judith J; Monaco, Anthony P AP; Nelson, Stanley F SF; Nurnberger, John I JI; Oliveira, Guiomar G; Parr, Jeremy R JR; Pericak-Vance, Margaret A MA; Piven, Joseph J; Schellenberg, Gerard D GD; Scherer, Stephen W SW; Vicente, Astrid M AM; Wassink, Thomas H TH; Wijsman, Ellen M EM; Betancur, Catalina C; Buxbaum, Joseph D JD; Cook, Edwin H EH; Gallagher, Louise L; Gill, Michael M; Hallmayer, Joachim J; Paterson, Andrew D AD; Sutcliffe, James S JS; Szatmari, Peter P; Vieland, Veronica J VJ; Hakonarson, Hakon H; Devlin, Bernie B
Publication Date: 2012-11-01

Variant appearance in text: rs5972577
PubMed Link: 22843504
Variant Present in the following documents:
  • Main text
  • dds301.pdf
View BVdb publication page



An X chromosome-wide association study in autism families identifies TBL1X as a novel autism spectrum disorder candidate gene in males.

Molecular Autism
Chung, Ren-Hua RH; Ma, Deqiong D; Wang, Kai K; Hedges, Dale J DJ; Jaworski, James M JM; Gilbert, John R JR; Cuccaro, Michael L ML; Wright, Harry H HH; Abramson, Ruth K RK; Konidari, Ioanna I; Whitehead, Patrice L PL; Schellenberg, Gerard D GD; Hakonarson, Hakon H; Haines, Jonathan L JL; Pericak-Vance, Margaret A MA; Martin, Eden R ER
Publication Date: 2011-11-04

Variant appearance in text: rs5972577
PubMed Link: 22050706
Variant Present in the following documents:
  • Main text
  • 2040-2392-2-18.pdf
View BVdb publication page



Common genetic variants on 5p14.1 associate with autism spectrum disorders.

Nature
Wang, Kai K; Zhang, Haitao H; Ma, Deqiong D; Bucan, Maja M; Glessner, Joseph T JT; Abrahams, Brett S BS; Salyakina, Daria D; Imielinski, Marcin M; Bradfield, Jonathan P JP; Sleiman, Patrick M A PM; Kim, Cecilia E CE; Hou, Cuiping C; Frackelton, Edward E; Chiavacci, Rosetta R; Takahashi, Nagahide N; Sakurai, Takeshi T; Rappaport, Eric E; Lajonchere, Clara M CM; Munson, Jeffrey J; Estes, Annette A; Korvatska, Olena O; Piven, Joseph J; Sonnenblick, Lisa I LI; Alvarez Retuerto, Ana I AI; Herman, Edward I EI; Dong, Hongmei H; Hutman, Ted T; Sigman, Marian M; Ozonoff, Sally S; Klin, Ami A; Owley, Thomas T; Sweeney, John A JA; Brune, Camille W CW; Cantor, Rita M RM; Bernier, Raphael R; Gilbert, John R JR; Cuccaro, Michael L ML; McMahon, William M WM; Miller, Judith J; State, Matthew W MW; Wassink, Thomas H TH; Coon, Hilary H; Levy, Susan E SE; Schultz, Robert T RT; Nurnberger, John I JI; Haines, Jonathan L JL; Sutcliffe, James S JS; Cook, Edwin H EH; Minshew, Nancy J NJ; Buxbaum, Joseph D JD; Dawson, Geraldine G; Grant, Struan F A SF; Geschwind, Daniel H DH; Pericak-Vance, Margaret A MA; Schellenberg, Gerard D GD; Hakonarson, Hakon H
Publication Date: 2009-05-28

Variant appearance in text: rs5972577
PubMed Link: 19404256
Variant Present in the following documents:
  • Main text
View BVdb publication page