EGR1 c.328_330delinsATC ;(p.L110I)

Variant ID: 5-137802466-CTG-ATC

NM_001964.2(EGR1):c.328_330delinsATC;(p.L110I)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


North-Western Himalayan Common Beans: Population Structure and Mapping of Quantitative Anthracnose Resistance Through Genome Wide Association Study.

Frontiers In Plant Science
Banoo, Aqleema A; Nabi, Asha A; Rasool, Rovidha S RS; Mahiya-Farooq, ; Shah, Mehraj D MD; Ahmad, Mushtaq M; Sofi, Parvaze A PA; Aasiya-Nabi, ; Itoo, Hamidullah H; Sharma, P N PN; Padder, Bilal A BA
Publication Date: 2020

Variant appearance in text: 225: Leu110Ile
PubMed Link: 33123180
Variant Present in the following documents:
  • Table_3.xlsx, sheet 1
View BVdb publication page



De Novo Damaging Variants, Clinical Phenotypes, and Post-Operative Outcomes in Congenital Heart Disease.

Circulation. Genomic And Precision Medicine
Boskovski, Marko T MT; Homsy, Jason J; Nathan, Meena M; Sleeper, Lynn A LA; Morton, Sarah S; Manheimer, Kathryn B KB; Tai, Angela A; Gorham, Joshua J; Lewis, Matthew M; Swartz, Michael M; Alfieris, George M GM; Bacha, Emile A EA; Karimi, Mohsen M; Meyer, David D; Nguyen, Khanh K; Bernstein, Daniel D; Romano-Adesman, Angela A; Porter, George A GA; Goldmuntz, Elizabeth E; Chung, Wendy K WK; Srivastava, Deepak D; Kaltman, Jonathan R JR; Tristani-Firouzi, Martin M; Lifton, Richard R; Roberts, Amy E AE; Gaynor, J William JW; Gelb, Bruce D BD; Kim, Richard R; Seidman, Jonathan G JG; Brueckner, Martina M; Mayer, John E JE; Newburger, Jane W JW; Seidman, Christine E CE
Publication Date: 2020-08

Variant appearance in text: 225: L110I
PubMed Link: 32812804
Variant Present in the following documents:
  • hcg-13-e002836-s001.pdf
View BVdb publication page