ENG c.220-6019C>T

Variant ID: 9-130598125-G-A

NM_001114753.2(ENG):c.220-6019C>T

This variant was identified in 5 publications

View GRCh38 version.




Publications:


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: rs11792480
PubMed Link: 32962750
Variant Present in the following documents:
  • Main text
  • 13023_2020_Article_1533.pdf
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: rs11792480
PubMed Link: 29580923
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Genetic adaptation of the human circadian clock to day-length latitudinal variations and relevance for affective disorders.

Genome Biology
Forni, Diego D; Pozzoli, Uberto U; Cagliani, Rachele R; Tresoldi, Claudia C; Menozzi, Giorgia G; Riva, Stefania S; Guerini, Franca R FR; Comi, Giacomo P GP; Bolognesi, Elisabetta E; Bresolin, Nereo N; Clerici, Mario M; Sironi, Manuela M
Publication Date: 2014

Variant appearance in text: rs11792480
PubMed Link: 25358694
Variant Present in the following documents:
  • Main text
  • 13059_2014_Article_499.pdf
View BVdb publication page



Hypertension and genetic variation in endothelial-specific genes.

Plos One
Larsson, Erik E; Wahlstrand, Björn B; Hedblad, Bo B; Hedner, Thomas T; Kjeldsen, Sverre E SE; Melander, Olle O; Lindahl, Per P
Publication Date: 2013

Variant appearance in text: rs11792480
PubMed Link: 23637959
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs11792480
PubMed Link: 23548068
Variant Present in the following documents:
  • Main text
  • 1471-2393-13-82.pdf
View BVdb publication page