COQ4 c.202G>C ;(p.D68H)

Variant ID: 9-131085426-G-C

NM_016035.3(COQ4):c.202G>C;(p.D68H)

This variant was identified in 11 publications

View GRCh38 version.




Publications:


A generalizable machine learning framework for classifying DNA repair defects using ctDNA exomes.

Npj Precision Oncology
Ritch, Elie J EJ; Herberts, Cameron C; Warner, Evan W EW; Ng, Sarah W S SWS; Kwan, Edmond M EM; Bacon, Jack V W JVW; Bernales, Cecily Q CQ; Schönlau, Elena E; Fonseca, Nicolette M NM; Giri, Veda N VN; Maurice-Dror, Corinne C; Vandekerkhove, Gillian G; Jones, Steven J M SJM; Chi, Kim N KN; Wyatt, Alexander W AW
Publication Date: 2023-03-13

Variant appearance in text: COQ4: D68H
PubMed Link: 36914848
Variant Present in the following documents:
  • 41698_2023_366_MOESM2_ESM.xlsx, sheet 4
View BVdb publication page



The efficacy of coenzyme Q10 treatment in alleviating the symptoms of primary coenzyme Q10 deficiency: A systematic review.

Journal Of Cellular And Molecular Medicine
Wang, Ying Y; Hekimi, Siegfried S
Publication Date: 2022-09

Variant appearance in text: COQ4: D68H
PubMed Link: 35985679
Variant Present in the following documents:
  • JCMM-26-4635-s001.pdf
View BVdb publication page



Primary Coenzyme Q10 Deficiency-7 and Pathogenic COQ4 Variants: Clinical Presentation, Biochemical Analyses, and Treatment.

Frontiers In Genetics
Xie, Jieqiong J; Jiang, Jiayang J; Guo, Qiwei Q
Publication Date: 2021

Variant appearance in text: COQ4: 202G>C
PubMed Link: 35154243
Variant Present in the following documents:
  • Main text
  • fgene-12-776807.pdf
View BVdb publication page



Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience
Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD
Publication Date: 2022-02

Variant appearance in text: COQ4: D68H; rs758522459
PubMed Link: 35115730
Variant Present in the following documents:
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9
View BVdb publication page



Rapid Phenotype-Driven Gene Sequencing with the NeoSeq Panel: A Diagnostic Tool for Critically Ill Newborns with Suspected Genetic Disease.

Journal Of Clinical Medicine
de Castro, María José MJ; González-Vioque, Emiliano E; Barbosa-Gouveia, Sofía S; Salguero, Enrique E; Rite, Segundo S; López-Suárez, Olalla O; Pérez-Muñuzuri, Alejandro A; Couce, María-Luz ML
Publication Date: 2020-07-23

Variant appearance in text: COQ4: Asp68His
PubMed Link: 32718099
Variant Present in the following documents:
  • Main text
  • jcm-09-02362.pdf
View BVdb publication page



Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy.

Epilepsia Open
Truty, Rebecca R; Patil, Nila N; Sankar, Raman R; Sullivan, Joseph J; Millichap, John J; Carvill, Gemma G; Entezam, Ali A; Esplin, Edward D ED; Fuller, Amy A; Hogue, Michelle M; Johnson, Britt B; Khouzam, Amirah A; Kobayashi, Yuya Y; Lewis, Rachel R; Nykamp, Keith K; Riethmaier, Darlene D; Westbrook, Jody J; Zeman, Michelle M; Nussbaum, Robert L RL; Aradhya, Swaroop S
Publication Date: 2019-09

Variant appearance in text: COQ4: 202G>C; Asp68His
PubMed Link: 31440721
Variant Present in the following documents:
  • EPI4-4-397-s003.xlsx, sheet 1
View BVdb publication page



Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese.

Npj Genomic Medicine
Yu, Mullin Ho-Chung MH; Tsang, Mandy Ho-Yin MH; Lai, Sophie S; Ho, Matthew Sai-Pong MS; Tse, Donald M L DML; Willis, Brooke B; Kwong, Anna Ka-Yee AK; Chou, Yen-Yin YY; Lin, Shuan-Pei SP; Quinzii, Catarina M CM; Hwu, Wuh-Liang WL; Chien, Yin-Hsiu YH; Kuo, Pao-Lin PL; Chan, Victor Chi-Man VC; Tsoi, Cheung C; Chong, Shuk-Ching SC; Rodenburg, Richard J T RJT; Smeitink, Jan J; Mak, Christopher Chun-Yu CC; Yeung, Kit-San KS; Fung, Jasmine Lee-Fong JL; Lam, Wendy W; Hui, Joannie J; Lee, Ni-Chung NC; Fung, Cheuk-Wing CW; Chung, Brian Hon-Yin BH
Publication Date: 2019

Variant appearance in text: COQ4: 202G>C
PubMed Link: 31396399
Variant Present in the following documents:
  • Main text
  • 41525_2019_Article_91.pdf
View BVdb publication page



Estimating the occurrence of primary ubiquinone deficiency by analysis of large-scale sequencing data.

Scientific Reports
Hughes, Bryan G BG; Harrison, Paul M PM; Hekimi, Siegfried S
Publication Date: 2017-12-18

Variant appearance in text: COQ4: 202G>C; Asp68His
PubMed Link: 29255295
Variant Present in the following documents:
  • Main text
  • 41598_2017_Article_17564.pdf
  • 41598_2017_17564_MOESM1_ESM.xlsx, sheet 5
  • 41598_2017_17564_MOESM3_ESM.xlsx, sheet 6
  • 41598_2017_17564_MOESM1_ESM.xlsx, sheet 4
  • 41598_2017_17564_MOESM1_ESM.xlsx, sheet 3
  • 41598_2017_17564_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



Novel recessive mutations in COQ4 cause severe infantile cardiomyopathy and encephalopathy associated with CoQ10 deficiency.

Molecular Genetics And Metabolism Reports
Sondheimer, Neal N; Hewson, Stacy S; Cameron, Jessie M JM; Somers, Gino R GR; Broadbent, Jane Dunning JD; Ziosi, Marcello M; Quinzii, Catarina Maria CM; Naini, Ali B AB
Publication Date: 2017-09

Variant appearance in text: COQ4: Asp68His
PubMed Link: 28540186
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16

Variant appearance in text: COQ4: D68H
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s3.xls, sheet 1
View BVdb publication page



Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Farwell Hagman, Kelly D KD; Shinde, Deepali N DN; Mroske, Cameron C; Smith, Erica E; Radtke, Kelly K; Shahmirzadi, Layla L; El-Khechen, Dima D; Powis, Zöe Z; Chao, Elizabeth C EC; Alcaraz, Wendy A WA; Helbig, Katherine L KL; Sajan, Samin A SA; Rossi, Mari M; Lu, Hsiao-Mei HM; Huether, Robert R; Li, Shuwei S; Wu, Sitao S; Nuñes, Mark E ME; Tang, Sha S
Publication Date: 2017-02

Variant appearance in text: COQ4: D68H
PubMed Link: 27513193
Variant Present in the following documents:
  • gim201695a.pdf
View BVdb publication page