EGR1 c.710del ;(p.P237Lfs*15)

Variant ID: 5-137802846-GC-G

NM_001964.2(EGR1):c.710del;(p.P237Lfs*15)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency: Report on 30 Patients.

Journal Of Clinical Immunology
Hashem, Hasan H; Bucciol, Giorgia G; Ozen, Seza S; Unal, Sule S; Bozkaya, Ikbal Ok IO; Akarsu, Nurten N; Taskinen, Mervi M; Koskenvuo, Minna M; Saarela, Janna J; Dimitrova, Dimana D; Hickstein, Dennis D DD; Hsu, Amy P AP; Holland, Steven M SM; Krance, Robert R; Sasa, Ghadir G; Kumar, Ashish R AR; Müller, Ingo I; de Sousa, Monica Abreu MA; Delafontaine, Selket S; Moens, Leen L; Babor, Florian F; Barzaghi, Federica F; Cicalese, Maria Pia MP; Bredius, Robbert R; van Montfrans, Joris J; Baretta, Valentina V; Cesaro, Simone S; Stepensky, Polina P; Benedicte, Neven N; Moshous, Despina D; Le Guenno, Guillaume G; Boutboul, David D; Dalal, Jignesh J; Brooks, Joel P JP; Dokmeci, Elif E; Dara, Jasmeen J; Lucas, Carrie L CL; Hambleton, Sophie S; Wilson, Keith K; Jolles, Stephen S; Koc, Yener Y; Güngör, Tayfun T; Schnider, Caroline C; Candotti, Fabio F; Steinmann, Sandra S; Schulz, Ansgar A; Chambers, Chip C; Hershfield, Michael M; Ombrello, Amanda A; Kanakry, Jennifer A JA; Meyts, Isabelle I
Publication Date: 2021-10

Variant appearance in text: 225: 709delC
PubMed Link: 34324127
Variant Present in the following documents:
  • Main text
  • 10875_2021_Article_1098.pdf
View BVdb publication page


Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency: Report on 30 Patients.

Journal Of Clinical Immunology
Hashem, Hasan H; Bucciol, Giorgia G; Ozen, Seza S; Unal, Sule S; Bozkaya, Ikbal Ok IO; Akarsu, Nurten N; Taskinen, Mervi M; Koskenvuo, Minna M; Saarela, Janna J; Dimitrova, Dimana D; Hickstein, Dennis D DD; Hsu, Amy P AP; Holland, Steven M SM; Krance, Robert R; Sasa, Ghadir G; Kumar, Ashish R AR; Müller, Ingo I; de Sousa, Monica Abreu MA; Delafontaine, Selket S; Moens, Leen L; Babor, Florian F; Barzaghi, Federica F; Cicalese, Maria Pia MP; Bredius, Robbert R; van Montfrans, Joris J; Baretta, Valentina V; Cesaro, Simone S; Stepensky, Polina P; Benedicte, Neven N; Moshous, Despina D; Le Guenno, Guillaume G; Boutboul, David D; Dalal, Jignesh J; Brooks, Joel P JP; Dokmeci, Elif E; Dara, Jasmeen J; Lucas, Carrie L CL; Hambleton, Sophie S; Wilson, Keith K; Jolles, Stephen S; Koc, Yener Y; Güngör, Tayfun T; Schnider, Caroline C; Candotti, Fabio F; Steinmann, Sandra S; Schulz, Ansgar A; Chambers, Chip C; Hershfield, Michael M; Ombrello, Amanda A; Kanakry, Jennifer A JA; Meyts, Isabelle I
Publication Date: 2021-10

Variant appearance in text: 225: 709delC
PubMed Link: 34324127
Variant Present in the following documents:
  • Main text
  • 10875_2021_Article_1098.pdf
View BVdb publication page