PKD1 c.6598C>T ;(p.R2200C)

Variant ID: 16-2158570-G-A

NM_001009944.2(PKD1):c.6598C>T;(p.R2200C)

This variant was identified in 16 publications

View GRCh38 version.




Publications:


Exome sequencing and analysis of 454,787 UK Biobank participants.

Nature
Backman, Joshua D JD; Li, Alexander H AH; Marcketta, Anthony A; Sun, Dylan D; Mbatchou, Joelle J; Kessler, Michael D MD; Benner, Christian C; Liu, Daren D; Locke, Adam E AE; Balasubramanian, Suganthi S; Yadav, Ashish A; Banerjee, Nilanjana N; Gillies, Christopher E CE; Damask, Amy A; Liu, Simon S; Bai, Xiaodong X; Hawes, Alicia A; Maxwell, Evan E; Gurski, Lauren L; Watanabe, Kyoko K; Kosmicki, Jack A JA; Rajagopal, Veera V; Mighty, Jason J; , ; , ; Jones, Marcus M; Mitnaul, Lyndon L; Stahl, Eli E; Coppola, Giovanni G; Jorgenson, Eric E; Habegger, Lukas L; Salerno, William J WJ; Shuldiner, Alan R AR; Lotta, Luca A LA; Overton, John D JD; Cantor, Michael N MN; Reid, Jeffrey G JG; Yancopoulos, George G; Kang, Hyun M HM; Marchini, Jonathan J; Baras, Aris A; Abecasis, Gonçalo R GR; Ferreira, Manuel A R MAR
Publication Date: 2021-11

Variant appearance in text: PKD1: Arg2200Cys
PubMed Link: 34662886
Variant Present in the following documents:
  • Main text
  • 41586_2021_4103_MOESM1_ESM.pdf
  • 41586_2021_Article_4103.pdf
View BVdb publication page



An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation
Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,
Publication Date: 2019-01-01

Variant appearance in text: PKD1: 6598C>T; Arg2200Cys
PubMed Link: 30937429
Variant Present in the following documents:
  • famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1
View BVdb publication page



PKD1 Duplicated regions limit clinical Utility of Whole Exome Sequencing for Genetic Diagnosis of Autosomal Dominant Polycystic Kidney Disease.

Scientific Reports
Ali, Hamad H; Al-Mulla, Fahd F; Hussain, Naser N; Naim, Medhat M; Asbeutah, Akram M AM; AlSahow, Ali A; Abu-Farha, Mohamed M; Abubaker, Jehad J; Al Madhoun, Ashraf A; Ahmad, Sajjad S; Harris, Peter C PC
Publication Date: 2019-03-11

Variant appearance in text: PKD1: 6598C>T; Arg2200Cys; rs140869992
PubMed Link: 30858458
Variant Present in the following documents:
  • Main text
  • 41598_2019_Article_40761.pdf
View BVdb publication page



Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.

Nature Genetics
Giri, Ayush A; Hellwege, Jacklyn N JN; Keaton, Jacob M JM; Park, Jihwan J; Qiu, Chengxiang C; Warren, Helen R HR; Torstenson, Eric S ES; Kovesdy, Csaba P CP; Sun, Yan V YV; Wilson, Otis D OD; Robinson-Cohen, Cassianne C; Roumie, Christianne L CL; Chung, Cecilia P CP; Birdwell, Kelly A KA; Damrauer, Scott M SM; DuVall, Scott L SL; Klarin, Derek D; Cho, Kelly K; Wang, Yu Y; Evangelou, Evangelos E; Cabrera, Claudia P CP; Wain, Louise V LV; Shrestha, Rojesh R; Mautz, Brian S BS; Akwo, Elvis A EA; Sargurupremraj, Muralidharan M; Debette, Stéphanie S; Boehnke, Michael M; Scott, Laura J LJ; Luan, Jian'an J; Zhao, Jing-Hua JH; Willems, Sara M SM; Thériault, Sébastien S; Shah, Nabi N; Oldmeadow, Christopher C; Almgren, Peter P; Li-Gao, Ruifang R; Verweij, Niek N; Boutin, Thibaud S TS; Mangino, Massimo M; Ntalla, Ioanna I; Feofanova, Elena E; Surendran, Praveen P; Cook, James P JP; Karthikeyan, Savita S; Lahrouchi, Najim N; Liu, Chunyu C; Sepúlveda, Nuno N; Richardson, Tom G TG; Kraja, Aldi A; Amouyel, Philippe P; Farrall, Martin M; Poulter, Neil R NR; , ; , ; , ; Laakso, Markku M; Zeggini, Eleftheria E; Sever, Peter P; Scott, Robert A RA; Langenberg, Claudia C; Wareham, Nicholas J NJ; Conen, David D; Palmer, Colin Neil Alexander CNA; Attia, John J; Chasman, Daniel I DI; Ridker, Paul M PM; Melander, Olle O; Mook-Kanamori, Dennis Owen DO; Harst, Pim van der PV; Cucca, Francesco F; Schlessinger, David D; Hayward, Caroline C; Spector, Tim D TD; Jarvelin, Marjo-Riitta MR; Hennig, Branwen J BJ; Timpson, Nicholas J NJ; Wei, Wei-Qi WQ; Smith, Joshua C JC; Xu, Yaomin Y; Matheny, Michael E ME; Siew, Edward E EE; Lindgren, Cecilia C; Herzig, Karl-Heinz KH; Dedoussis, George G; Denny, Joshua C JC; Psaty, Bruce M BM; Howson, Joanna M M JMM; Munroe, Patricia B PB; Newton-Cheh, Christopher C; Caulfield, Mark J MJ; Elliott, Paul P; Gaziano, J Michael JM; Concato, John J; Wilson, Peter W F PWF; Tsao, Philip S PS; Velez Edwards, Digna R DR; Susztak, Katalin K; , ; O'Donnell, Christopher J CJ; Hung, Adriana M AM; Edwards, Todd L TL
Publication Date: 2019-01

Variant appearance in text: rs140869992
PubMed Link: 30578418
Variant Present in the following documents:
  • Main text
  • nihms-1511350.pdf
View BVdb publication page



Whole-exon sequencing of human myeloma cell lines shows mutations related to myeloma patients at relapse with major hits in the DNA regulation and repair pathways.

Journal Of Hematology & Oncology
Tessoulin, Benoît B; Moreau-Aubry, Agnès A; Descamps, Géraldine G; Gomez-Bougie, Patricia P; Maïga, Sophie S; Gaignard, Alban A; Chiron, David D; Ménoret, Emmanuelle E; Le Gouill, Steven S; Moreau, Philippe P; Amiot, Martine M; Pellat-Deceunynck, Catherine C
Publication Date: 2018-12-13

Variant appearance in text: PKD1: 6598C>T; R2200C; rs140869992
PubMed Link: 30545397
Variant Present in the following documents:
  • 13045_2018_679_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD).

Scientific Reports
Carrera, Paola P; Calzavara, Silvia S; Magistroni, Riccardo R; den Dunnen, Johan T JT; Rigo, Francesca F; Stenirri, Stefania S; Testa, Francesca F; Messa, Piergiorgio P; Cerutti, Roberta R; Scolari, Francesco F; Izzi, Claudia C; Edefonti, Alberto A; Negrisolo, Susanna S; Benetti, Elisa E; Alibrandi, Maria Teresa Sciarrone MT; Manunta, Paolo P; Boletta, Alessandra A; Ferrari, Maurizio M
Publication Date: 2016-08-08

Variant appearance in text: PKD1: 6598C>T; Arg2200Cys; rs140869992
PubMed Link: 27499327
Variant Present in the following documents:
  • srep30850-s2.xlsx, sheet 1
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: PKD1: R2200C; rs140869992
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Identification of novel PKD1 and PKD2 mutations in a Chinese population with autosomal dominant polycystic kidney disease.

Scientific Reports
Liu, Bei B; Chen, Song-Chang SC; Yang, Yan-Mei YM; Yan, Kai K; Qian, Ye-Qing YQ; Zhang, Jun-Yu JY; Hu, Yu-Ting YT; Dong, Min-Yue MY; Jin, Fan F; Huang, He-Feng HF; Xu, Chen-Ming CM
Publication Date: 2015-12-03

Variant appearance in text: PKD1: 6598C>T; R2200C
PubMed Link: 26632257
Variant Present in the following documents:
View BVdb publication page



Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing.

Nature Communications
Merico, Daniele D; Roifman, Maian M; Braunschweig, Ulrich U; Yuen, Ryan K C RK; Alexandrova, Roumiana R; Bates, Andrea A; Reid, Brenda B; Nalpathamkalam, Thomas T; Wang, Zhuozhi Z; Thiruvahindrapuram, Bhooma B; Gray, Paul P; Kakakios, Alyson A; Peake, Jane J; Hogarth, Stephanie S; Manson, David D; Buncic, Raymond R; Pereira, Sergio L SL; Herbrick, Jo-Anne JA; Blencowe, Benjamin J BJ; Roifman, Chaim M CM; Scherer, Stephen W SW
Publication Date: 2015-11-02

Variant appearance in text: PKD1: R2200C; rs140869992
PubMed Link: 26522830
Variant Present in the following documents:
  • ncomms9718-s2.xlsx, sheet 4
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: PKD1: R2200C
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.

Plos One
Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E
Publication Date: 2015

Variant appearance in text: PKD1: R2200C
PubMed Link: 25807536
Variant Present in the following documents:
  • pone.0121644.s002.xls, sheet 1
View BVdb publication page



Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.

Scientific Reports
Steinberg, Karyn Meltz KM; Yu, Bing B; Koboldt, Daniel C DC; Mardis, Elaine R ER; Pamphlett, Roger R
Publication Date: 2015-03-16

Variant appearance in text: rs140869992
PubMed Link: 25773295
Variant Present in the following documents:
  • srep09124-s3.xls, sheet 1
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: PKD1: R2200C
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



Molecular diagnosis of autosomal dominant polycystic kidney disease using next-generation sequencing.

The Journal Of Molecular Diagnostics : Jmd
Tan, Adrian Y AY; Michaeel, Alber A; Liu, Genyan G; Elemento, Olivier O; Blumenfeld, Jon J; Donahue, Stephanie S; Parker, Tom T; Levine, Daniel D; Rennert, Hanna H
Publication Date: 2014-03

Variant appearance in text: PKD1: 6598C>T; R2200C
PubMed Link: 24374109
Variant Present in the following documents:
  • Main text
View BVdb publication page



A novel long-range PCR sequencing method for genetic analysis of the entire PKD1 gene.

The Journal Of Molecular Diagnostics : Jmd
Tan, Ying-Cai YC; Michaeel, Alber A; Blumenfeld, Jon J; Donahue, Stephanie S; Parker, Tom T; Levine, Daniel D; Rennert, Hanna H
Publication Date: 2012-07

Variant appearance in text: PKD1: 6598C>T; R2200C
PubMed Link: 22608885
Variant Present in the following documents:
  • Main text
View BVdb publication page



Evaluating the clinical utility of a molecular genetic test for polycystic kidney disease.

Molecular Genetics And Metabolism
Garcia-Gonzalez, Miguel A MA; Jones, Jeffrey G JG; Allen, Susan K SK; Palatucci, Christopher M CM; Batish, Sat D SD; Seltzer, William K WK; Lan, Zheng Z; Allen, Erica E; Qian, Feng F; Lens, Xose M XM; Pei, York Y; Germino, Gregory G GG; Watnick, Terry J TJ
Publication Date: 2007

Variant appearance in text: PKD1: R2200C
PubMed Link: 17574468
Variant Present in the following documents:
  • Main text
View BVdb publication page