IFT172 c.1829+12G>A

Variant ID: 2-27688601-C-T

NM_015662.1(IFT172):c.1829+12G>A

This variant was identified in 12 publications

View GRCh38 version.




Publications:


Integrative proteogenomic characterization of early esophageal cancer.

Nature Communications
Li, Lingling L; Jiang, Dongxian D; Zhang, Qiao Q; Liu, Hui H; Xu, Fujiang F; Guo, Chunmei C; Qin, Zhaoyu Z; Wang, Haixing H; Feng, Jinwen J; Liu, Yang Y; Chen, Weijie W; Zhang, Xue X; Bai, Lin L; Tian, Sha S; Tan, Subei S; Xu, Chen C; Song, Qi Q; Liu, Yalan Y; Zhong, Yunshi Y; Chen, Tianyin T; Zhou, Pinghong P; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-25

Variant appearance in text: rs1647276
PubMed Link: 36966136
Variant Present in the following documents:
  • 41467_2023_37440_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page



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: rs1647276
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology
Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA
Publication Date: 2021

Variant appearance in text: rs1647276
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Targeted exome sequencing identified a novel USH2A mutation in a Chinese usher syndrome family: a case report.

Bmc Ophthalmology
Xing, Dongjun D; Zhou, Huaiyu H; Yu, Rongguo R; Wang, Linni L; Hu, Liying L; Li, Zhiqing Z; Li, Xiaorong X
Publication Date: 2020-12-10

Variant appearance in text: rs1647276
PubMed Link: 33302902
Variant Present in the following documents:
  • 12886_2020_1711_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Systemic Investigation of Promoter-wide Methylome and Genome Variations in Gout.

International Journal Of Molecular Sciences
Tseng, Chia-Chun CC; Wong, Man Chun MC; Liao, Wei-Ting WT; Chen, Chung-Jen CJ; Lee, Su-Chen SC; Yen, Jeng-Hsien JH; Chang, Shun-Jen SJ
Publication Date: 2020-07-01

Variant appearance in text: rs1647276
PubMed Link: 32630231
Variant Present in the following documents:
  • ijms-21-04702-s001.pdf
View BVdb publication page



Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders
Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M
Publication Date: 2020-02-11

Variant appearance in text: IFT172: 1829+12G>A; rs1647276
PubMed Link: 32046637
Variant Present in the following documents:
  • 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1
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: IFT172: 1829+12G>A; rs1647276
PubMed Link: 31640808
Variant Present in the following documents:
  • 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Genomewide meta-analysis identifies loci associated with IGF-I and IGFBP-3 levels with impact on age-related traits.

Aging Cell
Teumer, Alexander A; Qi, Qibin Q; Nethander, Maria M; Aschard, Hugues H; Bandinelli, Stefania S; Beekman, Marian M; Berndt, Sonja I SI; Bidlingmaier, Martin M; Broer, Linda L; , ; Cappola, Anne A; Ceda, Gian Paolo GP; Chanock, Stephen S; Chen, Ming-Huei MH; Chen, Tai C TC; Chen, Yii-Der Ida YD; Chung, Jonathan J; Del Greco Miglianico, Fabiola F; Eriksson, Joel J; Ferrucci, Luigi L; Friedrich, Nele N; Gnewuch, Carsten C; Goodarzi, Mark O MO; Grarup, Niels N; Guo, Tingwei T; Hammer, Elke E; Hayes, Richard B RB; Hicks, Andrew A AA; Hofman, Albert A; Houwing-Duistermaat, Jeanine J JJ; Hu, Frank F; Hunter, David J DJ; Husemoen, Lise L LL; Isaacs, Aaron A; Jacobs, Kevin B KB; Janssen, Joop A M J L JA; Jansson, John-Olov JO; Jehmlich, Nico N; Johnson, Simon S; Juul, Anders A; Karlsson, Magnus M; Kilpelainen, Tuomas O TO; Kovacs, Peter P; Kraft, Peter P; Li, Chao C; Linneberg, Allan A; Liu, Yongmei Y; Loos, Ruth J F RJ; , ; Lorentzon, Mattias M; Lu, Yingchang Y; Maggio, Marcello M; Magi, Reedik R; Meigs, James J; Mellström, Dan D; Nauck, Matthias M; Newman, Anne B AB; Pollak, Michael N MN; Pramstaller, Peter P PP; Prokopenko, Inga I; Psaty, Bruce M BM; Reincke, Martin M; Rimm, Eric B EB; Rotter, Jerome I JI; Saint Pierre, Aude A; Schurmann, Claudia C; Seshadri, Sudha S; Sjögren, Klara K; Slagboom, P Eline PE; Strickler, Howard D HD; Stumvoll, Michael M; Suh, Yousin Y; Sun, Qi Q; Zhang, Cuilin C; Svensson, Johan J; Tanaka, Toshiko T; Tare, Archana A; Tönjes, Anke A; Uh, Hae-Won HW; van Duijn, Cornelia M CM; van Heemst, Diana D; Vandenput, Liesbeth L; Vasan, Ramachandran S RS; Völker, Uwe U; Willems, Sara M SM; Ohlsson, Claes C; Wallaschofski, Henri H; Kaplan, Robert C RC
Publication Date: 2016-10

Variant appearance in text: rs1647276
PubMed Link: 27329260
Variant Present in the following documents:
  • ACEL-15-811-s001.pdf
View BVdb publication page



Genome-wide meta-analysis uncovers novel loci influencing circulating leptin levels.

Nature Communications
Kilpeläinen, Tuomas O TO; Carli, Jayne F Martin JF; Skowronski, Alicja A AA; Sun, Qi Q; Kriebel, Jennifer J; Feitosa, Mary F MF; Hedman, Åsa K ÅK; Drong, Alexander W AW; Hayes, James E JE; Zhao, Jinghua J; Pers, Tune H TH; Schick, Ursula U; Grarup, Niels N; Kutalik, Zoltán Z; Trompet, Stella S; Mangino, Massimo M; Kristiansson, Kati K; Beekman, Marian M; Lyytikäinen, Leo-Pekka LP; Eriksson, Joel J; Henneman, Peter P; Lahti, Jari J; Tanaka, Toshiko T; Luan, Jian'an J; Del Greco M, Fabiola F; Pasko, Dorota D; Renström, Frida F; Willems, Sara M SM; Mahajan, Anubha A; Rose, Lynda M LM; Guo, Xiuqing X; Liu, Yongmei Y; Kleber, Marcus E ME; Pérusse, Louis L; Gaunt, Tom T; Ahluwalia, Tarunveer S TS; Ju Sung, Yun Y; Ramos, Yolande F YF; Amin, Najaf N; Amuzu, Antoinette A; Barroso, Inês I; Bellis, Claire C; Blangero, John J; Buckley, Brendan M BM; Böhringer, Stefan S; I Chen, Yii-Der YD; de Craen, Anton J N AJ; Crosslin, David R DR; Dale, Caroline E CE; Dastani, Zari Z; Day, Felix R FR; Deelen, Joris J; Delgado, Graciela E GE; Demirkan, Ayse A; Finucane, Francis M FM; Ford, Ian I; Garcia, Melissa E ME; Gieger, Christian C; Gustafsson, Stefan S; Hallmans, Göran G; Hankinson, Susan E SE; Havulinna, Aki S AS; Herder, Christian C; Hernandez, Dena D; Hicks, Andrew A AA; Hunter, David J DJ; Illig, Thomas T; Ingelsson, Erik E; Ioan-Facsinay, Andreea A; Jansson, John-Olov JO; Jenny, Nancy S NS; Jørgensen, Marit E ME; Jørgensen, Torben T; Karlsson, Magnus M; Koenig, Wolfgang W; Kraft, Peter P; Kwekkeboom, Joanneke J; Laatikainen, Tiina T; Ladwig, Karl-Heinz KH; LeDuc, Charles A CA; Lowe, Gordon G; Lu, Yingchang Y; Marques-Vidal, Pedro P; Meisinger, Christa C; Menni, Cristina C; Morris, Andrew P AP; Myers, Richard H RH; Männistö, Satu S; Nalls, Mike A MA; Paternoster, Lavinia L; Peters, Annette A; Pradhan, Aruna D AD; Rankinen, Tuomo T; Rasmussen-Torvik, Laura J LJ; Rathmann, Wolfgang W; Rice, Treva K TK; Brent Richards, J J; Ridker, Paul M PM; Sattar, Naveed N; Savage, David B DB; Söderberg, Stefan S; Timpson, Nicholas J NJ; Vandenput, Liesbeth L; van Heemst, Diana D; Uh, Hae-Won HW; Vohl, Marie-Claude MC; Walker, Mark M; Wichmann, Heinz-Erich HE; Widén, Elisabeth E; Wood, Andrew R AR; Yao, Jie J; Zeller, Tanja T; Zhang, Yiying Y; Meulenbelt, Ingrid I; Kloppenburg, Margreet M; Astrup, Arne A; Sørensen, Thorkild I A TI; Sarzynski, Mark A MA; Rao, D C DC; Jousilahti, Pekka P; Vartiainen, Erkki E; Hofman, Albert A; Rivadeneira, Fernando F; Uitterlinden, André G AG; Kajantie, Eero E; Osmond, Clive C; Palotie, Aarno A; Eriksson, Johan G JG; Heliövaara, Markku M; Knekt, Paul B PB; Koskinen, Seppo S; Jula, Antti A; Perola, Markus M; Huupponen, Risto K RK; Viikari, Jorma S JS; Kähönen, Mika M; Lehtimäki, Terho T; Raitakari, Olli T OT; Mellström, Dan D; Lorentzon, Mattias M; Casas, Juan P JP; Bandinelli, Stefanie S; März, Winfried W; Isaacs, Aaron A; van Dijk, Ko W KW; van Duijn, Cornelia M CM; Harris, Tamara B TB; Bouchard, Claude C; Allison, Matthew A MA; Chasman, Daniel I DI; Ohlsson, Claes C; Lind, Lars L; Scott, Robert A RA; Langenberg, Claudia C; Wareham, Nicholas J NJ; Ferrucci, Luigi L; Frayling, Timothy M TM; Pramstaller, Peter P PP; Borecki, Ingrid B IB; Waterworth, Dawn M DM; Bergmann, Sven S; Waeber, Gérard G; Vollenweider, Peter P; Vestergaard, Henrik H; Hansen, Torben T; Pedersen, Oluf O; Hu, Frank B FB; Eline Slagboom, P P; Grallert, Harald H; Spector, Tim D TD; Jukema, J W JW; Klein, Robert J RJ; Schadt, Erik E EE; Franks, Paul W PW; Lindgren, Cecilia M CM; Leibel, Rudolph L RL; Loos, Ruth J F RJ
Publication Date: 2016-02-01

Variant appearance in text: rs1647276
PubMed Link: 26833098
Variant Present in the following documents:
  • ncomms10494-s1.pdf
View BVdb publication page



Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Publication Date: 2015-12-08

Variant appearance in text: rs1647276
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
  • mmc3.xlsx, sheet 2
  • mmc3.xlsx, sheet 1
View BVdb publication page



Genetic and epigenetic profiling of CLL disease progression reveals limited somatic evolution and suggests a relationship to memory-cell development.

Blood Cancer Journal
Smith, E N EN; Ghia, E M EM; DeBoever, C M CM; Rassenti, L Z LZ; Jepsen, K K; Yoon, K-A KA; Matsui, H H; Rozenzhak, S S; Alakus, H H; Shepard, P J PJ; Dai, Y Y; Khosroheidari, M M; Bina, M M; Gunderson, K L KL; Messer, K K; Muthuswamy, L L; Hudson, T J TJ; Harismendy, O O; Barrett, C L CL; Jamieson, C H M CH; Carson, D A DA; Kipps, T J TJ; Frazer, K A KA
Publication Date: 2015-04-10

Variant appearance in text: rs1647276
PubMed Link: 25860294
Variant Present in the following documents:
  • bcj201514x3.xlsx, sheet 1
View BVdb publication page



Whole exome sequencing of a single osteosarcoma case--integrative analysis with whole transcriptome RNA-seq data.

Human Genomics
Reimann, Ene E; Kõks, Sulev S; Ho, Xuan Dung XD; Maasalu, Katre K; Märtson, Aare A
Publication Date: 2014-12-11

Variant appearance in text: rs1647276
PubMed Link: 25496518
Variant Present in the following documents:
  • 40246_2014_20_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page