ACADS c.*527A>G

Variant ID: 12-121177778-A-G

NM_000017.2(ACADS):c.*527A>G

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs9204
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Genome-wide association study of metabolites in patients with coronary artery disease identified novel metabolite quantitative trait loci.

Clinical And Translational Medicine
Wang, Zixian Z; Zhu, Qian Q; Liu, Yibin Y; Chen, Shiyu S; Zhang, Ying Y; Ma, Qilin Q; Chen, Xiaoping X; Liu, Chen C; Lei, Heping H; Chen, Hui H; Wang, Jing J; Zheng, Shufen S; Li, Zehua Z; Xiong, Lingjuan L; Lai, Weihua W; Zhong, Shilong S
Publication Date: 2021-02

Variant appearance in text: rs9204
PubMed Link: 33634981
Variant Present in the following documents:
  • Main text
  • CTM2-11-e290.pdf
View BVdb publication page



Genetics of 35 blood and urine biomarkers in the UK Biobank.

Nature Genetics
Sinnott-Armstrong, Nasa N; Tanigawa, Yosuke Y; Amar, David D; Mars, Nina N; Benner, Christian C; Aguirre, Matthew M; Venkataraman, Guhan Ram GR; Wainberg, Michael M; Ollila, Hanna M HM; Kiiskinen, Tuomo T; Havulinna, Aki S AS; Pirruccello, James P JP; Qian, Junyang J; Shcherbina, Anna A; , ; Rodriguez, Fatima F; Assimes, Themistocles L TL; Agarwala, Vineeta V; Tibshirani, Robert R; Hastie, Trevor T; Ripatti, Samuli S; Pritchard, Jonathan K JK; Daly, Mark J MJ; Rivas, Manuel A MA
Publication Date: 2021-02

Variant appearance in text: rs9204
PubMed Link: 33462484
Variant Present in the following documents:
  • NIHMS1651539-supplement-2.xlsx, sheet 21
View BVdb publication page



PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology
Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S
Publication Date: 2019-10-22

Variant appearance in text: rs9204
PubMed Link: 31640808
Variant Present in the following documents:
  • 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget
Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S
Publication Date: 2015-06-20

Variant appearance in text: rs9204
PubMed Link: 25944692
Variant Present in the following documents:
  • oncotarget-06-15375-s005.xlsx, sheet 2
View BVdb publication page



Metabolic heritability at birth: implications for chronic disease research.

Human Genetics
Ryckman, Kelli K KK; Smith, Caitlin J CJ; Jelliffe-Pawlowski, Laura L LL; Momany, Allison M AM; Berberich, Stanton L SL; Murray, Jeffrey C JC
Publication Date: 2014-08

Variant appearance in text: rs9204
PubMed Link: 24850141
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing.

Nucleic Acids Research
Wang, Wenyi W; Shen, Peidong P; Thiyagarajan, Sreedevi S; Lin, Shengrong S; Palm, Curtis C; Horvath, Rita R; Klopstock, Thomas T; Cutler, David D; Pique, Lynn L; Schrijver, Iris I; Davis, Ronald W RW; Mindrinos, Michael M; Speed, Terence P TP; Scharfe, Curt C
Publication Date: 2011-01

Variant appearance in text: rs9204
PubMed Link: 20843780
Variant Present in the following documents:
  • supp_gkq750_NAR-WangWetal-SuppTable-6.xls, sheet 1
View BVdb publication page



Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis.

Nature Genetics
Voight, Benjamin F BF; Scott, Laura J LJ; Steinthorsdottir, Valgerdur V; Morris, Andrew P AP; Dina, Christian C; Welch, Ryan P RP; Zeggini, Eleftheria E; Huth, Cornelia C; Aulchenko, Yurii S YS; Thorleifsson, Gudmar G; McCulloch, Laura J LJ; Ferreira, Teresa T; Grallert, Harald H; Amin, Najaf N; Wu, Guanming G; Willer, Cristen J CJ; Raychaudhuri, Soumya S; McCarroll, Steve A SA; Langenberg, Claudia C; Hofmann, Oliver M OM; Dupuis, Josée J; Qi, Lu L; Segrè, Ayellet V AV; van Hoek, Mandy M; Navarro, Pau P; Ardlie, Kristin K; Balkau, Beverley B; Benediktsson, Rafn R; Bennett, Amanda J AJ; Blagieva, Roza R; Boerwinkle, Eric E; Bonnycastle, Lori L LL; Bengtsson Boström, Kristina K; Bravenboer, Bert B; Bumpstead, Suzannah S; Burtt, Noisël P NP; Charpentier, Guillaume G; Chines, Peter S PS; Cornelis, Marilyn M; Couper, David J DJ; Crawford, Gabe G; Doney, Alex S F AS; Elliott, Katherine S KS; Elliott, Amanda L AL; Erdos, Michael R MR; Fox, Caroline S CS; Franklin, Christopher S CS; Ganser, Martha M; Gieger, Christian C; Grarup, Niels N; Green, Todd T; Griffin, Simon S; Groves, Christopher J CJ; Guiducci, Candace C; Hadjadj, Samy S; Hassanali, Neelam N; Herder, Christian C; Isomaa, Bo B; Jackson, Anne U AU; Johnson, Paul R V PR; Jørgensen, Torben T; Kao, Wen H L WH; Klopp, Norman N; Kong, Augustine A; Kraft, Peter P; Kuusisto, Johanna J; Lauritzen, Torsten T; Li, Man M; Lieverse, Aloysius A; Lindgren, Cecilia M CM; Lyssenko, Valeriya V; Marre, Michel M; Meitinger, Thomas T; Midthjell, Kristian K; Morken, Mario A MA; Narisu, Narisu N; Nilsson, Peter P; Owen, Katharine R KR; Payne, Felicity F; Perry, John R B JR; Petersen, Ann-Kristin AK; Platou, Carl C; Proença, Christine C; Prokopenko, Inga I; Rathmann, Wolfgang W; Rayner, N William NW; Robertson, Neil R NR; Rocheleau, Ghislain G; Roden, Michael M; Sampson, Michael J MJ; Saxena, Richa R; Shields, Beverley M BM; Shrader, Peter P; Sigurdsson, Gunnar G; Sparsø, Thomas T; Strassburger, Klaus K; Stringham, Heather M HM; Sun, Qi Q; Swift, Amy J AJ; Thorand, Barbara B; Tichet, Jean J; Tuomi, Tiinamaija T; van Dam, Rob M RM; van Haeften, Timon W TW; van Herpt, Thijs T; van Vliet-Ostaptchouk, Jana V JV; Walters, G Bragi GB; Weedon, Michael N MN; Wijmenga, Cisca C; Witteman, Jacqueline J; Bergman, Richard N RN; Cauchi, Stephane S; Collins, Francis S FS; Gloyn, Anna L AL; Gyllensten, Ulf U; Hansen, Torben T; Hide, Winston A WA; Hitman, Graham A GA; Hofman, Albert A; Hunter, David J DJ; Hveem, Kristian K; Laakso, Markku M; Mohlke, Karen L KL; Morris, Andrew D AD; Palmer, Colin N A CN; Pramstaller, Peter P PP; Rudan, Igor I; Sijbrands, Eric E; Stein, Lincoln D LD; Tuomilehto, Jaakko J; Uitterlinden, Andre A; Walker, Mark M; Wareham, Nicholas J NJ; Watanabe, Richard M RM; Abecasis, Gonçalo R GR; Boehm, Bernhard O BO; Campbell, Harry H; Daly, Mark J MJ; Hattersley, Andrew T AT; Hu, Frank B FB; Meigs, James B JB; Pankow, James S JS; Pedersen, Oluf O; Wichmann, H-Erich HE; Barroso, Inês I; Florez, Jose C JC; Frayling, Timothy M TM; Groop, Leif L; Sladek, Rob R; Thorsteinsdottir, Unnur U; Wilson, James F JF; Illig, Thomas T; Froguel, Philippe P; van Duijn, Cornelia M CM; Stefansson, Kari K; Altshuler, David D; Boehnke, Michael M; McCarthy, Mark I MI; , ; ,
Publication Date: 2010-07

Variant appearance in text: rs9204
PubMed Link: 20581827
Variant Present in the following documents:
  • Main text
View BVdb publication page