TMEM175 c.-31-2410C>T

Variant ID: 4-939087-C-T

NM_032326.2(TMEM175):c.-31-2410C>T

This variant was identified in 14 publications

View GRCh38 version.




Publications:


Transmembrane Protein 175, a Lysosomal Ion Channel Related to Parkinson's Disease.

Biomolecules
Tang, Tuoxian T; Jian, Boshuo B; Liu, Zhenjiang Z
Publication Date: 2023-05-09

Variant appearance in text: rs6599388
PubMed Link: 37238672
Variant Present in the following documents:
  • Main text
  • biomolecules-13-00802.pdf
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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: rs6599388
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
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Imputation and Reanalysis of ExomeChip Data Identifies Novel, Conditional and Joint Genetic Effects on Parkinson's Disease Risk.

Genes
Rodrigo, Linduni M LM; Nyholt, Dale R DR
Publication Date: 2021-05-04

Variant appearance in text: rs6599388
PubMed Link: 34064523
Variant Present in the following documents:
  • Main text
  • genes-12-00689.pdf
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Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture.

Nature Genetics
Chia, Ruth R; Sabir, Marya S MS; Bandres-Ciga, Sara S; Saez-Atienzar, Sara S; Reynolds, Regina H RH; Gustavsson, Emil E; Walton, Ronald L RL; Ahmed, Sarah S; Viollet, Coralie C; Ding, Jinhui J; Makarious, Mary B MB; Diez-Fairen, Monica M; Portley, Makayla K MK; Shah, Zalak Z; Abramzon, Yevgeniya Y; Hernandez, Dena G DG; Blauwendraat, Cornelis C; Stone, David J DJ; Eicher, John J; Parkkinen, Laura L; Ansorge, Olaf O; Clark, Lorraine L; Honig, Lawrence S LS; Marder, Karen K; Lemstra, Afina A; St George-Hyslop, Peter P; Londos, Elisabet E; Morgan, Kevin K; Lashley, Tammaryn T; Warner, Thomas T TT; Jaunmuktane, Zane Z; Galasko, Douglas D; Santana, Isabel I; Tienari, Pentti J PJ; Myllykangas, Liisa L; Oinas, Minna M; Cairns, Nigel J NJ; Morris, John C JC; Halliday, Glenda M GM; Van Deerlin, Vivianna M VM; Trojanowski, John Q JQ; Grassano, Maurizio M; Calvo, Andrea A; Mora, Gabriele G; Canosa, Antonio A; Floris, Gianluca G; Bohannan, Ryan C RC; Brett, Francesca F; Gan-Or, Ziv Z; Geiger, Joshua T JT; Moore, Anni A; May, Patrick P; Krüger, Rejko R; Goldstein, David S DS; Lopez, Grisel G; Tayebi, Nahid N; Sidransky, Ellen E; , ; Norcliffe-Kaufmann, Lucy L; Palma, Jose-Alberto JA; Kaufmann, Horacio H; Shakkottai, Vikram G VG; Perkins, Matthew M; Newell, Kathy L KL; Gasser, Thomas T; Schulte, Claudia C; Landi, Francesco F; Salvi, Erika E; Cusi, Daniele D; Masliah, Eliezer E; Kim, Ronald C RC; Caraway, Chad A CA; Monuki, Edwin S ES; Brunetti, Maura M; Dawson, Ted M TM; Rosenthal, Liana S LS; Albert, Marilyn S MS; Pletnikova, Olga O; Troncoso, Juan C JC; Flanagan, Margaret E ME; Mao, Qinwen Q; Bigio, Eileen H EH; Rodríguez-Rodríguez, Eloy E; Infante, Jon J; Lage, Carmen C; González-Aramburu, Isabel I; Sanchez-Juan, Pascual P; Ghetti, Bernardino B; Keith, Julia J; Black, Sandra E SE; Masellis, Mario M; Rogaeva, Ekaterina E; Duyckaerts, Charles C; Brice, Alexis A; Lesage, Suzanne S; Xiromerisiou, Georgia G; Barrett, Matthew J MJ; Tilley, Bension S BS; Gentleman, Steve S; Logroscino, Giancarlo G; Serrano, Geidy E GE; Beach, Thomas G TG; McKeith, Ian G IG; Thomas, Alan J AJ; Attems, Johannes J; Morris, Christopher M CM; Palmer, Laura L; Love, Seth S; Troakes, Claire C; Al-Sarraj, Safa S; Hodges, Angela K AK; Aarsland, Dag D; Klein, Gregory G; Kaiser, Scott M SM; Woltjer, Randy R; Pastor, Pau P; Bekris, Lynn M LM; Leverenz, James B JB; Besser, Lilah M LM; Kuzma, Amanda A; Renton, Alan E AE; Goate, Alison A; Bennett, David A DA; Scherzer, Clemens R CR; Morris, Huw R HR; Ferrari, Raffaele R; Albani, Diego D; Pickering-Brown, Stuart S; Faber, Kelley K; Kukull, Walter A WA; Morenas-Rodriguez, Estrella E; Lleó, Alberto A; Fortea, Juan J; Alcolea, Daniel D; Clarimon, Jordi J; Nalls, Mike A MA; Ferrucci, Luigi L; Resnick, Susan M SM; Tanaka, Toshiko T; Foroud, Tatiana M TM; Graff-Radford, Neill R NR; Wszolek, Zbigniew K ZK; Ferman, Tanis T; Boeve, Bradley F BF; Hardy, John A JA; Topol, Eric J EJ; Torkamani, Ali A; Singleton, Andrew B AB; Ryten, Mina M; Dickson, Dennis W DW; Chiò, Adriano A; Ross, Owen A OA; Gibbs, J Raphael JR; Dalgard, Clifton L CL; Traynor, Bryan J BJ; Scholz, Sonja W SW
Publication Date: 2021-03

Variant appearance in text: rs6599388
PubMed Link: 33589841
Variant Present in the following documents:
  • Main text
  • NIHMS1662931-supplement-1662931_Supp_Tab3-5-Supp_Note.pdf
  • nihms-1662931.pdf
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Genetic and Environmental Factors Influence the Pleomorphy of LRRK2 Parkinsonism.

International Journal Of Molecular Sciences
Chittoor-Vinod, Vinita G VG; Nichols, R Jeremy RJ; Schüle, Birgitt B
Publication Date: 2021-01-21

Variant appearance in text: rs6599388
PubMed Link: 33494262
Variant Present in the following documents:
  • Main text
  • ijms-22-01045.pdf
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Large-scale identification of clinical and genetic predictors of motor progression in patients with newly diagnosed Parkinson's disease: a longitudinal cohort study and validation.

The Lancet. Neurology
Latourelle, Jeanne C JC; Beste, Michael T MT; Hadzi, Tiffany C TC; Miller, Robert E RE; Oppenheim, Jacob N JN; Valko, Matthew P MP; Wuest, Diane M DM; Church, Bruce W BW; Khalil, Iya G IG; Hayete, Boris B; Venuto, Charles S CS
Publication Date: 2017-11

Variant appearance in text: rs6599388
PubMed Link: 28958801
Variant Present in the following documents:
  • NIHMS910076-supplement.pdf
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Genetic Determinants of Parkinson's Disease: Can They Help to Stratify the Patients Based on the Underlying Molecular Defect?

Frontiers In Aging Neuroscience
Redenšek, Sara S; Trošt, Maja M; Dolžan, Vita V
Publication Date: 2017

Variant appearance in text: rs6599388
PubMed Link: 28239348
Variant Present in the following documents:
  • Main text
  • fnagi-09-00020.pdf
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Variants in GBA, SNCA, and MAPT influence Parkinson disease risk, age at onset, and progression.

Neurobiology Of Aging
Davis, Albert A AA; Andruska, Kristin M KM; Benitez, Bruno A BA; Racette, Brad A BA; Perlmutter, Joel S JS; Cruchaga, Carlos C
Publication Date: 2016-01

Variant appearance in text: rs6599388
PubMed Link: 26601739
Variant Present in the following documents:
  • Main text
View BVdb publication page



GWAS risk factors in Parkinson's disease: LRRK2 coding variation and genetic interaction with PARK16.

American Journal Of Neurodegenerative Disease
Soto-Ortolaza, Alexandra I AI; Heckman, Michael G MG; Labbé, Catherine C; Serie, Daniel J DJ; Puschmann, Andreas A; Rayaprolu, Sruti S; Strongosky, Audrey A; Boczarska-Jedynak, Magdalena M; Opala, Grzegorz G; Krygowska-Wajs, Anna A; Barcikowska, Maria M; Czyzewski, Krzysztof K; Lynch, Timothy T; Uitti, Ryan J RJ; Wszolek, Zbigniew K ZK; Ross, Owen A OA
Publication Date: 2013

Variant appearance in text: rs6599388
PubMed Link: 24319646
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variations of GAK in two Chinese Parkinson's disease populations: a case-control study.

Plos One
Tseng, Wei-En Johnny WE; Chen, Chiung-Mei CM; Chen, Yi-Chun YC; Yi, Zhao Z; Tan, Eng-King EK; Wu, Yih-Ru YR
Publication Date: 2013

Variant appearance in text: rs6599388
PubMed Link: 23826309
Variant Present in the following documents:
  • Main text
  • pone.0067506.pdf
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Risk prediction for complex diseases: application to Parkinson disease.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Hall, Taryn O TO; Wan, Jia Y JY; Mata, Ignacio F IF; Kerr, Kathleen F KF; Snapinn, Katherine W KW; Samii, Ali A; Roberts, John W JW; Agarwal, Pinky P; Zabetian, Cyrus P CP; Edwards, Karen L KL
Publication Date: 2013-05

Variant appearance in text: rs6599388
PubMed Link: 23222663
Variant Present in the following documents:
  • Main text
View BVdb publication page



Large-scale replication and heterogeneity in Parkinson disease genetic loci.

Neurology
Sharma, Manu M; Ioannidis, John P A JP; Aasly, Jan O JO; Annesi, Grazia G; Brice, Alexis A; Van Broeckhoven, Christine C; Bertram, Lars L; Bozi, Maria M; Crosiers, David D; Clarke, Carl C; Facheris, Maurizio M; Farrer, Matthew M; Garraux, Gaetan G; Gispert, Suzana S; Auburger, Georg G; Vilariño-Güell, Carles C; Hadjigeorgiou, Georgios M GM; Hicks, Andrew A AA; Hattori, Nobutaka N; Jeon, Beom B; Lesage, Suzanne S; Lill, Christina M CM; Lin, Juei-Jueng JJ; Lynch, Timothy T; Lichtner, Peter P; Lang, Anthony E AE; Mok, Vincent V; Jasinska-Myga, Barbara B; Mellick, George D GD; Morrison, Karen E KE; Opala, Grzegorz G; Pramstaller, Peter P PP; Pichler, Irene I; Park, Sung Sup SS; Quattrone, Aldo A; Rogaeva, Ekaterina E; Ross, Owen A OA; Stefanis, Leonidas L; Stockton, Joanne D JD; Satake, Wataru W; Silburn, Peter A PA; Theuns, Jessie J; Tan, Eng-King EK; Toda, Tatsushi T; Tomiyama, Hiroyuki H; Uitti, Ryan J RJ; Wirdefeldt, Karin K; Wszolek, Zbigniew Z; Xiromerisiou, Georgia G; Yueh, Kuo-Chu KC; Zhao, Yi Y; Gasser, Thomas T; Maraganore, Demetrius D; Krüger, Rejko R; ,
Publication Date: 2012-08-14

Variant appearance in text: rs6599388
PubMed Link: 22786590
Variant Present in the following documents:
  • Main text
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Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database.

Plos Genetics
Lill, Christina M CM; Roehr, Johannes T JT; McQueen, Matthew B MB; Kavvoura, Fotini K FK; Bagade, Sachin S; Schjeide, Brit-Maren M BM; Schjeide, Leif M LM; Meissner, Esther E; Zauft, Ute U; Allen, Nicole C NC; Liu, Tian T; Schilling, Marcel M; Anderson, Kari J KJ; Beecham, Gary G; Berg, Daniela D; Biernacka, Joanna M JM; Brice, Alexis A; DeStefano, Anita L AL; Do, Chuong B CB; Eriksson, Nicholas N; Factor, Stewart A SA; Farrer, Matthew J MJ; Foroud, Tatiana T; Gasser, Thomas T; Hamza, Taye T; Hardy, John A JA; Heutink, Peter P; Hill-Burns, Erin M EM; Klein, Christine C; Latourelle, Jeanne C JC; Maraganore, Demetrius M DM; Martin, Eden R ER; Martinez, Maria M; Myers, Richard H RH; Nalls, Michael A MA; Pankratz, Nathan N; Payami, Haydeh H; Satake, Wataru W; Scott, William K WK; Sharma, Manu M; Singleton, Andrew B AB; Stefansson, Kari K; Toda, Tatsushi T; Tung, Joyce Y JY; Vance, Jeffery J; Wood, Nick W NW; Zabetian, Cyrus P CP; , ; , ; , ; , ; Young, Peter P; Tanzi, Rudolph E RE; Khoury, Muin J MJ; Zipp, Frauke F; Lehrach, Hans H; Ioannidis, John P A JP; Bertram, Lars L
Publication Date: 2012

Variant appearance in text: rs6599388
PubMed Link: 22438815
Variant Present in the following documents:
  • Main text
  • pgen.1002548.pdf
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No association between Parkinson disease alleles and the risk of melanoma.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Meng, Shasha S; Song, Fengju F; Chen, Honglei H; Gao, Xiang X; Amos, Christopher I CI; Lee, Jeffrey E JE; Wei, Qingyi Q; Qureshi, Abrar A AA; Han, Jiali J
Publication Date: 2012-01

Variant appearance in text: rs6599388
PubMed Link: 22086882
Variant Present in the following documents:
  • Main text
View BVdb publication page