SHROOM3 c.168+3058G>A

Variant ID: 4-77360431-G-A

NM_020859.3(SHROOM3):c.168+3058G>A

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: rs9992101
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Pathway Association Studies Reveal Gene Loci and Pathway Networks that Associated With Plasma Cystatin C Levels.

Frontiers In Genetics
Jiao, Hongxiao H; Zhang, Miaomiao M; Zhang, Yuan Y; Wang, Yaogang Y; Li, Wei-Dong WD
Publication Date: 2021

Variant appearance in text: rs9992101
PubMed Link: 34899825
Variant Present in the following documents:
  • Main text
  • fgene-12-711155.pdf
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Novel Haplotype Indicator for End-Stage Renal Disease Progression among Saudi Patients.

International Journal Of Nephrology
Cyrus, Cyril C; Chathoth, Shahanas S; Vatte, Chittibabu C; Alrubaish, Nafie N; Almuhanna, Othman O; Borgio, J Francis JF; Al-Mueilo, Samir S; Al Muhanna, Fahd F; Al Ali, Amein K AK
Publication Date: 2019

Variant appearance in text: rs9992101
PubMed Link: 31534799
Variant Present in the following documents:
  • Main text
  • IJN2019-1095215.pdf
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Genomic approaches in the search for molecular biomarkers in chronic kidney disease.

Journal Of Translational Medicine
Cañadas-Garre, M M; Anderson, K K; McGoldrick, J J; Maxwell, A P AP; McKnight, A J AJ
Publication Date: 2018-10-25

Variant appearance in text: rs9992101
PubMed Link: 30359254
Variant Present in the following documents:
  • Main text
  • 12967_2018_Article_1664.pdf
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Assessing known chronic kidney disease associated genetic variants in Saudi Arabian populations.

Bmc Nephrology
Cyrus, Cyril C; Al-Mueilo, Samir S; Vatte, Chittibabu C; Chathoth, Shahanas S; Li, Yun R YR; Qutub, Hatem H; Al Ali, Rudaynah R; Al-Muhanna, Fahad F; Lanktree, Matthew B MB; Alkharsah, Khaled Riyad KR; Al-Rubaish, Abdullah A; Kim-Mozeleski, Brian B; Keating, Brendan B; Al Ali, Amein A
Publication Date: 2018-04-17

Variant appearance in text: rs9992101
PubMed Link: 29665793
Variant Present in the following documents:
  • Main text
  • 12882_2018_Article_890.pdf
View BVdb publication page



Genetic epidemiology in kidney disease.

Nephrology, Dialysis, Transplantation : Official Publication Of The European Dialysis And Transplant Association - European Renal Association
Ainsworth, Hannah C HC; Langefeld, Carl D CD; Freedman, Barry I BI
Publication Date: 2017-04-01

Variant appearance in text: rs9992101
PubMed Link: 28201750
Variant Present in the following documents:
  • Main text
View BVdb publication page



Re-annotation of presumed noncoding disease/trait-associated genetic variants by integrative analyses.

Scientific Reports
Chen, Geng G; Yu, Dianke D; Chen, Jiwei J; Cao, Ruifang R; Yang, Juan J; Wang, Huan H; Ji, Xiangjun X; Ning, Baitang B; Shi, Tieliu T
Publication Date: 2015-03-30

Variant appearance in text: rs9992101
PubMed Link: 25819875
Variant Present in the following documents:
  • srep09453-s1.pdf
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Genetic loci influencing kidney function and chronic kidney disease.

Nature Genetics
Chambers, John C JC; Zhang, Weihua W; Lord, Graham M GM; van der Harst, Pim P; Lawlor, Debbie A DA; Sehmi, Joban S JS; Gale, Daniel P DP; Wass, Mark N MN; Ahmadi, Kourosh R KR; Bakker, Stephan J L SJ; Beckmann, Jacqui J; Bilo, Henk J G HJ; Bochud, Murielle M; Brown, Morris J MJ; Caulfield, Mark J MJ; Connell, John M C JM; Cook, H Terence HT; Cotlarciuc, Ioana I; Davey Smith, George G; de Silva, Ranil R; Deng, Guohong G; Devuyst, Olivier O; Dikkeschei, Lambert D LD; Dimkovic, Nada N; Dockrell, Mark M; Dominiczak, Anna A; Ebrahim, Shah S; Eggermann, Thomas T; Farrall, Martin M; Ferrucci, Luigi L; Floege, Jurgen J; Forouhi, Nita G NG; Gansevoort, Ron T RT; Han, Xijin X; Hedblad, Bo B; Homan van der Heide, Jaap J JJ; Hepkema, Bouke G BG; Hernandez-Fuentes, Maria M; Hypponen, Elina E; Johnson, Toby T; de Jong, Paul E PE; Kleefstra, Nanne N; Lagou, Vasiliki V; Lapsley, Marta M; Li, Yun Y; Loos, Ruth J F RJ; Luan, Jian'an J; Luttropp, Karin K; Maréchal, Céline C; Melander, Olle O; Munroe, Patricia B PB; Nordfors, Louise L; Parsa, Afshin A; Peltonen, Leena L; Penninx, Brenda W BW; Perucha, Esperanza E; Pouta, Anneli A; Prokopenko, Inga I; Roderick, Paul J PJ; Ruokonen, Aimo A; Samani, Nilesh J NJ; Sanna, Serena S; Schalling, Martin M; Schlessinger, David D; Schlieper, Georg G; Seelen, Marc A J MA; Shuldiner, Alan R AR; Sjögren, Marketa M; Smit, Johannes H JH; Snieder, Harold H; Soranzo, Nicole N; Spector, Timothy D TD; Stenvinkel, Peter P; Sternberg, Michael J E MJ; Swaminathan, Ramasamyiyer R; Tanaka, Toshiko T; Ubink-Veltmaat, Lielith J LJ; Uda, Manuela M; Vollenweider, Peter P; Wallace, Chris C; Waterworth, Dawn D; Zerres, Klaus K; Waeber, Gerard G; Wareham, Nicholas J NJ; Maxwell, Patrick H PH; McCarthy, Mark I MI; Jarvelin, Marjo-Riitta MR; Mooser, Vincent V; Abecasis, Goncalo R GR; Lightstone, Liz L; Scott, James J; Navis, Gerjan G; Elliott, Paul P; Kooner, Jaspal S JS
Publication Date: 2010-05

Variant appearance in text: rs9992101
PubMed Link: 20383145
Variant Present in the following documents:
  • Main text
View BVdb publication page