PICALM c.1840-241A>C

Variant ID: 11-85686096-T-G

NM_007166.3(PICALM):c.1840-241A>C

This variant was identified in 3 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: rs532470
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
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: PICALM: 1840-241A>C; rs532470
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
View BVdb publication page



Meta-analysis confirms CR1, CLU, and PICALM as alzheimer disease risk loci and reveals interactions with APOE genotypes.

Archives Of Neurology
Jun, Gyungah G; Naj, Adam C AC; Beecham, Gary W GW; Wang, Li-San LS; Buros, Jacqueline J; Gallins, Paul J PJ; Buxbaum, Joseph D JD; Ertekin-Taner, Nilufer N; Fallin, M Daniele MD; Friedland, Robert R; Inzelberg, Rivka R; Kramer, Patricia P; Rogaeva, Ekaterina E; St George-Hyslop, Peter P; , ; Cantwell, Laura B LB; Dombroski, Beth A BA; Saykin, Andrew J AJ; Reiman, Eric M EM; Bennett, David A DA; Morris, John C JC; Lunetta, Kathryn L KL; Martin, Eden R ER; Montine, Thomas J TJ; Goate, Alison M AM; Blacker, Deborah D; Tsuang, Debby W DW; Beekly, Duane D; Cupples, L Adrienne LA; Hakonarson, Hakon H; Kukull, Walter W; Foroud, Tatiana M TM; Haines, Jonathan J; Mayeux, Richard R; Farrer, Lindsay A LA; Pericak-Vance, Margaret A MA; Schellenberg, Gerard D GD
Publication Date: 2010-12

Variant appearance in text: rs532470
PubMed Link: 20697030
Variant Present in the following documents:
  • Main text
View BVdb publication page