LRRK2 c.6382-160T>C

Variant ID: 12-40745181-T-C

NM_198578.3(LRRK2):c.6382-160T>C

This variant was identified in 6 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: rs7307310
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



LRRK2 Gene Variants Associated With a Higher Risk for Alcohol Dependence in Multiethnic Populations.

Frontiers In Psychiatry
Oliveira, Pablo Rafael Silveira PRS; de Matos, Lorena Oliveira LO; Araujo, Nathalia Matta NM; Sant Anna, Hanaísa P HP; da Silva E Silva, Daniel Almeida DA; Damasceno, Andresa K Andrade AKA; Martins de Carvalho, Luana L; Horta, Bernardo L BL; Lima-Costa, Maria Fernanda MF; Barreto, Mauricio Lima ML; Wiers, Corinde E CE; Volkow, Nora D ND; Brunialti Godard, Ana Lúcia AL
Publication Date: 2021

Variant appearance in text: rs7307310
PubMed Link: 34135785
Variant Present in the following documents:
  • Main text
  • fpsyt-12-665257.pdf
View BVdb publication page



Multiomics dissection of molecular regulatory mechanisms underlying autoimmune-associated noncoding SNPs.

Jci Insight
Chen, Xiao-Feng XF; Guo, Ming-Rui MR; Duan, Yuan-Yuan YY; Jiang, Feng F; Wu, Hao H; Dong, Shan-Shan SS; Zhou, Xiao-Rong XR; Thynn, Hlaing Nwe HN; Liu, Cong-Cong CC; Zhang, Lin L; Guo, Yan Y; Yang, Tie-Lin TL
Publication Date: 2020-09-03

Variant appearance in text: rs7307310
PubMed Link: 32879140
Variant Present in the following documents:
  • jciinsight-5-136477-s105.xlsx, sheet 5
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: LRRK2: 6382-160T>C; rs7307310
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
  • Table_6.xlsx, sheet 1
View BVdb publication page



Parkinson's disease and low frequency alleles found together throughout LRRK2.

Annals Of Human Genetics
Paisán-Ruiz, Coro C; Washecka, Nicole N; Nath, Priti P; Singleton, Andrew B AB; Corder, Elizabeth H EH
Publication Date: 2009-07

Variant appearance in text: rs7307310
PubMed Link: 19489756
Variant Present in the following documents:
  • Main text
View BVdb publication page



Testing association between LRRK2 and Parkinson's disease and investigating linkage disequilibrium.

Journal Of Medical Genetics
Paisán-Ruíz, C C; Evans, E W EW; Jain, S S; Xiromerisiou, G G; Gibbs, J R JR; Eerola, J J; Gourbali, V V; Hellström, O O; Duckworth, J J; Papadimitriou, A A; Tienari, P J PJ; Hadjigeorgiou, G M GM; Singleton, A B AB
Publication Date: 2006-02

Variant appearance in text: rs7307310
PubMed Link: 16467219
Variant Present in the following documents:
  • Main text
View BVdb publication page