COL4A5 c.2184G>T ;(p.G728=)

Variant ID: X-107846231-G-T

NM_033380.2(COL4A5):c.2184G>T;(p.G728=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Clonal dynamics of haematopoiesis across the human lifespan.

Nature
Mitchell, Emily E; Spencer Chapman, Michael M; Williams, Nicholas N; Dawson, Kevin J KJ; Mende, Nicole N; Calderbank, Emily F EF; Jung, Hyunchul H; Mitchell, Thomas T; Coorens, Tim H H THH; Spencer, David H DH; Machado, Heather H; Lee-Six, Henry H; Davies, Megan M; Hayler, Daniel D; Fabre, Margarete A MA; Mahbubani, Krishnaa K; Abascal, Federico F; Cagan, Alex A; Vassiliou, George S GS; Baxter, Joanna J; Martincorena, Inigo I; Stratton, Michael R MR; Kent, David G DG; Chatterjee, Krishna K; Parsy, Kourosh Saeb KS; Green, Anthony R AR; Nangalia, Jyoti J; Laurenti, Elisa E; Campbell, Peter J PJ
Publication Date: 2022-06

Variant appearance in text: COL4A5: G728G
PubMed Link: 35650442
Variant Present in the following documents:
  • 41586_2022_4786_MOESM11_ESM.xlsx, sheet 1
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Mutations in TCF8 cause posterior polymorphous corneal dystrophy and ectopic expression of COL4A3 by corneal endothelial cells.

American Journal Of Human Genetics
Krafchak, Charles M CM; Pawar, Hemant H; Moroi, Sayoko E SE; Sugar, Alan A; Lichter, Paul R PR; Mackey, David A DA; Mian, Shahzad S; Nairus, Theresa T; Elner, Victor V; Schteingart, Miriam T MT; Downs, Catherine A CA; Kijek, Theresa Guckian TG; Johnson, Jenae M JM; Trager, Edward H EH; Rozsa, Frank W FW; Mandal, Md Nawajes Ali MN; Epstein, Michael P MP; Vollrath, Douglas D; Ayyagari, Radha R; Boehnke, Michael M; Richards, Julia E JE
Publication Date: 2005-11

Variant appearance in text:
PubMed Link: 16252232
Variant Present in the following documents:
  • Main text
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