ENG c.1686+306A>G

Variant ID: 9-130580093-T-C

NM_001114753.2(ENG):c.1686+306A>G

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications
Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-29

Variant appearance in text: rs10987746
PubMed Link: 36991000
Variant Present in the following documents:
  • 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
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Potential Second-Hits in Hereditary Hemorrhagic Telangiectasia.

Journal Of Clinical Medicine
Bernabeu, Carmelo C; Bayrak-Toydemir, Pinar P; McDonald, Jamie J; Letarte, Michelle M
Publication Date: 2020-11-05

Variant appearance in text: rs10987746
PubMed Link: 33167572
Variant Present in the following documents:
  • Main text
  • jcm-09-03571.pdf
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Sequence variations of ACVRL1 play a critical role in hepatic vascular malformations in hereditary hemorrhagic telangiectasia.

Orphanet Journal Of Rare Diseases
Giraud, Sophie S; Bardel, Claire C; Dupuis-Girod, Sophie S; Carette, Marie-France MF; Gilbert-Dussardier, Brigitte B; Riviere, Sophie S; Saurin, Jean-Christophe JC; Eyries, Mélanie M; Patri, Sylvie S; Decullier, Evelyne E; Calender, Alain A; Lesca, Gaëtan G
Publication Date: 2020-09-22

Variant appearance in text: rs10987746
PubMed Link: 32962750
Variant Present in the following documents:
  • Main text
  • 13023_2020_Article_1533.pdf
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: ENG: 1686+306A>G; rs10987746
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
View BVdb publication page



Endoglin pathway genetic variation in preeclampsia: A validation study in Norwegian and Latina cohorts.

Pregnancy Hypertension
Schmella, Mandy J MJ; Roberts, James M JM; Conley, Yvette P YP; Ren, Dianxu D; Storvold, Gro L GL; Ingles, Sue A SA; Wilson, Melissa L ML; Staff, Anne Catherine AC; Hubel, Carl A CA
Publication Date: 2018-04

Variant appearance in text: rs10987746
PubMed Link: 29580923
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Genetic variation in the functional ENG allele inherited from the non-affected parent associates with presence of pulmonary arteriovenous malformation in hereditary hemorrhagic telangiectasia 1 (HHT1) and may influence expression of PTPN14.

Frontiers In Genetics
Letteboer, Tom G W TG; Benzinou, Michael M; Merrick, Christopher B CB; Quigley, David A DA; Zhau, Kechen K; Kim, Il-Jin IJ; To, Minh D MD; Jablons, David M DM; van Amstel, Johannes K P JK; Westermann, Cornelius J J CJ; Giraud, Sophie S; Dupuis-Girod, Sophie S; Lesca, Gaetan G; Berg, Jonathan H JH; Balmain, Allan A; Akhurst, Rosemary J RJ
Publication Date: 2015

Variant appearance in text: rs10987746
PubMed Link: 25815003
Variant Present in the following documents:
  • Main text
  • fgene-06-00067.pdf
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Variation in endoglin pathway genes is associated with preeclampsia: a case-control candidate gene association study.

Bmc Pregnancy And Childbirth
Bell, Mandy J MJ; Roberts, James M JM; Founds, Sandra A SA; Jeyabalan, Arun A; Terhorst, Lauren L; Conley, Yvette P YP
Publication Date: 2013-04-01

Variant appearance in text: rs10987746
PubMed Link: 23548068
Variant Present in the following documents:
  • Main text
  • 1471-2393-13-82.pdf
View BVdb publication page



Genes involved with folate uptake and distribution and their association with colorectal cancer risk.

Cancer Causes & Control : Ccc
Figueiredo, Jane C JC; Levine, A Joan AJ; Lee, Won H WH; Conti, David V DV; Poynter, Jenny N JN; Campbell, Peter T PT; Duggan, David D; Lewinger, Juan Pablo JP; Martinez, Maria Elena ME; Ulrich, Cornelia M CM; Newcomb, Polly P; Potter, John J; Limburg, Paul J PJ; Hopper, John J; Jenkins, Mark A MA; Le Marchand, Loic L; Baron, John A JA; Haile, Robert W RW
Publication Date: 2010-04

Variant appearance in text: rs10987746
PubMed Link: 20037791
Variant Present in the following documents:
  • Main text
View BVdb publication page



Outcomes of methotrexate therapy for psoriasis and relationship to genetic polymorphisms.

The British Journal Of Dermatology
Warren, R B RB; Smith, R L RL; Campalani, E E; Eyre, S S; Smith, C H CH; Barker, J N W N JN; Worthington, J J; Griffiths, C E M CE
Publication Date: 2009-02

Variant appearance in text: rs10987746
PubMed Link: 19016697
Variant Present in the following documents:
  • Main text
  • bjd0160-0438.pdf
View BVdb publication page