PDGFRA c.1558+119T>A

Variant ID: 4-55140016-T-A

NM_006206.4(PDGFRA):c.1558+119T>A

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs869978
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT.

Acta Neuropathologica Communications
Jungwirth, Gerhard G; Warta, Rolf R; Beynon, Christopher C; Sahm, Felix F; von Deimling, Andreas A; Unterberg, Andreas A; Herold-Mende, Christel C; Jungk, Christine C
Publication Date: 2019-08-30

Variant appearance in text: rs869978
PubMed Link: 31470906
Variant Present in the following documents:
  • 40478_2019_793_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



PDGFRA gene, maternal binge drinking and obstructive heart defects.

Scientific Reports
Tang, Xinyu X; Eberhart, Johann K JK; Cleves, Mario A MA; Li, Jingyun J; Li, Ming M; MacLeod, Stewart S; Nembhard, Wendy N WN; Hobbs, Charlotte A CA
Publication Date: 2018-07-23

Variant appearance in text: rs869978
PubMed Link: 30038270
Variant Present in the following documents:
  • Main text
  • 41598_2018_Article_29160.pdf
View BVdb publication page



Attenuated PDGF signaling drives alveolar and microvascular defects in neonatal chronic lung disease.

Embo Molecular Medicine
Oak, Prajakta P; Pritzke, Tina T; Thiel, Isabella I; Koschlig, Markus M; Mous, Daphne S DS; Windhorst, Anita A; Jain, Noopur N; Eickelberg, Oliver O; Foerster, Kai K; Schulze, Andreas A; Goepel, Wolfgang W; Reicherzer, Tobias T; Ehrhardt, Harald H; Rottier, Robbert J RJ; Ahnert, Peter P; Gortner, Ludwig L; Desai, Tushar J TJ; Hilgendorff, Anne A
Publication Date: 2017-11

Variant appearance in text: rs869978
PubMed Link: 28923828
Variant Present in the following documents:
  • EMMM-9-1504-s001.pdf
View BVdb publication page