ABCC8 c.1252T>C ;(p.C418R)

Variant ID: 11-17470143-A-G

NM_000352.3(ABCC8):c.1252T>C;(p.C418R)

This variant was identified in 19 publications

View GRCh38 version.




Publications:


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: ABCC8: C418R; rs67254669
PubMed Link: 35115730
Variant Present in the following documents:
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9
View BVdb publication page



Case Report: A Novel ABCC8 Variant in a Chinese Pedigree of Maturity-Onset Diabetes of the Young.

Frontiers In Endocrinology
Tang, Chaoyan C; Meng, Liheng L; Zhang, Ping P; Liang, Xinghuan X; Dang, Chaozhi C; Liang, Hui H; Wu, Junfeng J; Lan, Haiyun H; Qin, Yingfen Y
Publication Date: 2021

Variant appearance in text: ABCC8: 1252T>C; Cys418Arg
PubMed Link: 35002955
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Clinical and Genetic Characteristics of ABCC8 Nonneonatal Diabetes Mellitus: A Systematic Review.

Journal Of Diabetes Research
Li, Meng M; Han, Xueyao X; Ji, Linong L
Publication Date: 2021

Variant appearance in text: ABCC8: C418R
PubMed Link: 34631896
Variant Present in the following documents:
  • Main text
  • JDR2021-9479268.pdf
  • 9479268.f1.pdf
View BVdb publication page



Genetic and Clinical Characterization of Patients with Maturity-Onset of Diabetes of the Young (MODY): Identification of Novel Variations.

Balkan Medical Journal
Ateş, Esra Arslan EA; Üstay, Özlem Ö; Polat, Hamza H; Apaydın, Tuğçe T; Elbasan, Onur O; Yıldırım, Özlem Ö; Güney, Ahmet İlter Aİ
Publication Date: 2021-09

Variant appearance in text: ABCC8: 1252T>C; Cys418Arg
PubMed Link: 34462253
Variant Present in the following documents:
  • bmj-38-5-272.pdf
View BVdb publication page



Visual interpretation, not SUV ratios, is the ideal method to interpret 18F-DOPA PET scans to aid in the cure of patients with focal congenital hyperinsulinism.

Plos One
Garg, Pradeep K PK; Putegnat, Burton B; Truong, Lisa L; Reynolds, Courtney C; Sanchez, Irene I; Nedrelow, Jonathan K JK; Uffman, John J; Lokitz, Stephen J SJ; Nazih, Rachid R; Garg, Sudha S; Thornton, Paul S PS
Publication Date: 2020

Variant appearance in text: ABCC8: 1252T>C; Cys418Arg
PubMed Link: 33108363
Variant Present in the following documents:
  • Main text
  • pone.0241243.pdf
View BVdb publication page



Characterization of Exome Variants and Their Metabolic Impact in 6,716 American Indians from the Southwest US.

American Journal Of Human Genetics
Kim, Hye In HI; Ye, Bin B; Gosalia, Nehal N; , ; Köroğlu, Çiğdem Ç; Hanson, Robert L RL; Hsueh, Wen-Chi WC; Knowler, William C WC; Baier, Leslie J LJ; Bogardus, Clifton C; Shuldiner, Alan R AR; Van Hout, Cristopher V CV
Publication Date: 2020-08-06

Variant appearance in text: rs67254669
PubMed Link: 32640185
Variant Present in the following documents:
  • Main text
View BVdb publication page



The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research
Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,
Publication Date: 2020-09

Variant appearance in text: ABCC8: 1252T>C; Cys418Arg; rs67254669
PubMed Link: 32355288
Variant Present in the following documents:
  • 41422_2020_322_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page



Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Bmc Medical Genomics
Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA
Publication Date: 2020-02-10

Variant appearance in text: ABCC8: 1252T>C; Cys418Arg
PubMed Link: 32041611
Variant Present in the following documents:
  • 12920_2020_669_MOESM1_ESM.xlsx, sheet 3
  • 12920_2020_669_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page



Exome Sequencing in BRCA1- and BRCA2-Negative Greek Families Identifies MDM1 and NBEAL1 as Candidate Risk Genes for Hereditary Breast Cancer.

Frontiers In Genetics
Glentis, Stavros S; Dimopoulos, Alexandros C AC; Rouskas, Konstantinos K; Ntritsos, George G; Evangelou, Evangelos E; Narod, Steven A SA; Mes-Masson, Anne-Marie AM; Foulkes, William D WD; Rivera, Barbara B; Tonin, Patricia N PN; Ragoussis, Jiannis J; Dimas, Antigone S AS
Publication Date: 2019

Variant appearance in text: ABCC8: C418R; rs67254669
PubMed Link: 31681433
Variant Present in the following documents:
  • DataSheet_1.xlsx, sheet 10
View BVdb publication page



First Report of Diabetes Phenotype due to a Loss-of-Function ABCC8 Mutation Previously Known to Cause Congenital Hyperinsulinism.

Case Reports In Genetics
Koufakis, Theocharis T; Sertedaki, Amalia A; Tatsi, Elizabeth-Barbara EB; Trakatelli, Christina-Maria CM; Karras, Spyridon N SN; Manthou, Eleni E; Kanaka-Gantenbein, Christina C; Kotsa, Kalliopi K
Publication Date: 2019

Variant appearance in text: ABCC8: C418R
PubMed Link: 31110826
Variant Present in the following documents:
  • Main text
  • CRIG2019-3654618.pdf
View BVdb publication page



Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps.

Nature Genetics
Mahajan, Anubha A; Taliun, Daniel D; Thurner, Matthias M; Robertson, Neil R NR; Torres, Jason M JM; Rayner, N William NW; Payne, Anthony J AJ; Steinthorsdottir, Valgerdur V; Scott, Robert A RA; Grarup, Niels N; Cook, James P JP; Schmidt, Ellen M EM; Wuttke, Matthias M; Sarnowski, Chloé C; Mägi, Reedik R; Nano, Jana J; Gieger, Christian C; Trompet, Stella S; Lecoeur, Cécile C; Preuss, Michael H MH; Prins, Bram Peter BP; Guo, Xiuqing X; Bielak, Lawrence F LF; Below, Jennifer E JE; Bowden, Donald W DW; Chambers, John Campbell JC; Kim, Young Jin YJ; Ng, Maggie C Y MCY; Petty, Lauren E LE; Sim, Xueling X; Zhang, Weihua W; Bennett, Amanda J AJ; Bork-Jensen, Jette J; Brummett, Chad M CM; Canouil, Mickaël M; Ec Kardt, Kai-Uwe KU; Fischer, Krista K; Kardia, Sharon L R SLR; Kronenberg, Florian F; Läll, Kristi K; Liu, Ching-Ti CT; Locke, Adam E AE; Luan, Jian'an J; Ntalla, Ioanna I; Nylander, Vibe V; Schönherr, Sebastian S; Schurmann, Claudia C; Yengo, Loïc L; Bottinger, Erwin P EP; Brandslund, Ivan I; Christensen, Cramer C; Dedoussis, George G; Florez, Jose C JC; Ford, Ian I; Franco, Oscar H OH; Frayling, Timothy M TM; Giedraitis, Vilmantas V; Hackinger, Sophie S; Hattersley, Andrew T AT; Herder, Christian C; Ikram, M Arfan MA; Ingelsson, Martin M; Jørgensen, Marit E ME; Jørgensen, Torben T; Kriebel, Jennifer J; Kuusisto, Johanna J; Ligthart, Symen S; Lindgren, Cecilia M CM; Linneberg, Allan A; Lyssenko, Valeriya V; Mamakou, Vasiliki V; Meitinger, Thomas T; Mohlke, Karen L KL; Morris, Andrew D AD; Nadkarni, Girish G; Pankow, James S JS; Peters, Annette A; Sattar, Naveed N; Stančáková, Alena A; Strauch, Konstantin K; Taylor, Kent D KD; Thorand, Barbara B; Thorleifsson, Gudmar G; Thorsteinsdottir, Unnur U; Tuomilehto, Jaakko J; Witte, Daniel R DR; Dupuis, Josée J; Peyser, Patricia A PA; Zeggini, Eleftheria E; Loos, Ruth J F RJF; Froguel, Philippe P; Ingelsson, Erik E; Lind, Lars L; Groop, Leif L; Laakso, Markku M; Collins, Francis S FS; Jukema, J Wouter JW; Palmer, Colin N A CNA; Grallert, Harald H; Metspalu, Andres A; Dehghan, Abbas A; Köttgen, Anna A; Abecasis, Goncalo R GR; Meigs, James B JB; Rotter, Jerome I JI; Marchini, Jonathan J; Pedersen, Oluf O; Hansen, Torben T; Langenberg, Claudia C; Wareham, Nicholas J NJ; Stefansson, Kari K; Gloyn, Anna L AL; Morris, Andrew P AP; Boehnke, Michael M; McCarthy, Mark I MI
Publication Date: 2018-11

Variant appearance in text: ABCC8: Cys418Arg; rs67254669
PubMed Link: 30297969
Variant Present in the following documents:
  • Main text
View BVdb publication page



The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine
Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM
Publication Date: 2016-07-26

Variant appearance in text: ABCC8: 1252T>C; C418R; rs67254669
PubMed Link: 27460824
Variant Present in the following documents:
  • 13073_2016_333_MOESM5_ESM.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: HHF1: C418R; rs67254669
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
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: ABCC8: C418R
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 5
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: ABCC8: C418R
PubMed Link: 25807536
Variant Present in the following documents:
  • pone.0121644.s002.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: ABCC8: C418R; rs67254669
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism.

European Journal Of Endocrinology
Kapoor, Ritika R RR; Flanagan, Sarah E SE; Arya, Ved Bhushan VB; Shield, Julian P JP; Ellard, Sian S; Hussain, Khalid K
Publication Date: 2013-04

Variant appearance in text: ABCC8: Cys418Arg; rs67254669
PubMed Link: 23345197
Variant Present in the following documents:
  • supp_EJE-12-0673_EJE_120673_Suppl_Table.pdf
View BVdb publication page



Clinical and metabolic features of adult-onset diabetes caused by ABCC8 mutations.

Diabetes Care
Riveline, Jean-Pierre JP; Rousseau, Elise E; Reznik, Yves Y; Fetita, Sabrina S; Philippe, Julien J; Dechaume, Aurélie A; Hartemann, Agnès A; Polak, Michel M; Petit, Catherine C; Charpentier, Guillaume G; Gautier, Jean-François JF; Froguel, Philippe P; Vaxillaire, Martine M
Publication Date: 2012-02

Variant appearance in text: ABCC8: 1252T>C
PubMed Link: 22210575
Variant Present in the following documents:
  • Main text
  • 248.pdf
  • supp_dc11-1469v111469_DC111469SupplementaryData.pdf
View BVdb publication page