EEFSEC c.1600+4044G>C

Variant ID: 3-128081260-G-C

NM_021937.3(EEFSEC):c.1600+4044G>C

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Novel germline TRAF3IP3 mutation in a dyad with familial acute B lymphoblastic leukemia.

Cancer Reports (Hoboken, N.J.)
Pommert, Lauren L; Burns, Robert R; Furumo, Quinlan Q; Pulakanti, Kirthi K; Brandt, Jon J; Burke, Michael J MJ; Rao, Sridhar S
Publication Date: 2021-06

Variant appearance in text: EEFSEC: 1600+4044G>C; rs1735545
PubMed Link: 33503336
Variant Present in the following documents:
  • CNR2-4-e1335-s003.xlsx, sheet 2
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: EEFSEC: 1600+4044G>C; rs1735545
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
View BVdb publication page



Genetic Associations with Gestational Duration and Spontaneous Preterm Birth.

The New England Journal Of Medicine
Zhang, Ge G; Feenstra, Bjarke B; Bacelis, Jonas J; Liu, Xueping X; Muglia, Lisa M LM; Juodakis, Julius J; Miller, Daniel E DE; Litterman, Nadia N; Jiang, Pan-Pan PP; Russell, Laura L; Hinds, David A DA; Hu, Youna Y; Weirauch, Matthew T MT; Chen, Xiaoting X; Chavan, Arun R AR; Wagner, Günter P GP; Pavličev, Mihaela M; Nnamani, Mauris C MC; Maziarz, Jamie J; Karjalainen, Minna K MK; Rämet, Mika M; Sengpiel, Verena V; Geller, Frank F; Boyd, Heather A HA; Palotie, Aarno A; Momany, Allison A; Bedell, Bruce B; Ryckman, Kelli K KK; Huusko, Johanna M JM; Forney, Carmy R CR; Kottyan, Leah C LC; Hallman, Mikko M; Teramo, Kari K; Nohr, Ellen A EA; Davey Smith, George G; Melbye, Mads M; Jacobsson, Bo B; Muglia, Louis J LJ
Publication Date: 2017-09-21

Variant appearance in text: rs1735545
PubMed Link: 28877031
Variant Present in the following documents:
  • NEJMoa1612665-Muglia-Supplement.pdf
View BVdb publication page



Putative Prostate Cancer Risk SNP in an Androgen Receptor-Binding Site of the Melanophilin Gene Illustrates Enrichment of Risk SNPs in Androgen Receptor Target Sites.

Human Mutation
Bu, Huajie H; Narisu, Narisu N; Schlick, Bettina B; Rainer, Johannes J; Manke, Thomas T; Schäfer, Georg G; Pasqualini, Lorenza L; Chines, Peter P; Schweiger, Michal R MR; Fuchsberger, Christian C; Klocker, Helmut H
Publication Date: 2016-01

Variant appearance in text: rs1735545
PubMed Link: 26411452
Variant Present in the following documents:
  • HUMU-37-52-s001.pdf
View BVdb publication page