CFTR c.1811C>G ;(p.T604S)

Variant ID: 7-117232032-C-G

NM_000492.3(CFTR):c.1811C>G;(p.T604S)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Proteome-wide Structural Analysis of PTM Hotspots Reveals Regulatory Elements Predicted to Impact Biological Function and Disease.

Molecular & Cellular Proteomics : Mcp
Torres, Matthew P MP; Dewhurst, Henry H; Sundararaman, Niveda N
Publication Date: 2016-11

Variant appearance in text: CFTR: 1811C>G; Thr604Ser
PubMed Link: 27697855
Variant Present in the following documents:
  • 10.1074_M116.062331_mcp.M116.062331-3.xlsx, sheet 5
View BVdb publication page



Diagnostic testing by CFTR gene mutation analysis in a large group of Hispanics: novel mutations and assessment of a population-specific mutation spectrum.

The Journal Of Molecular Diagnostics : Jmd
Schrijver, Iris I; Ramalingam, Sudha S; Sankaran, Ramalingam R; Swanson, Steve S; Dunlop, Charles L M CL; Keiles, Steven S; Moss, Richard B RB; Oehlert, John J; Gardner, Phyllis P; Wassman, E Robert ER; Kammesheidt, Anja A
Publication Date: 2005-05

Variant appearance in text: CFTR: T604S
PubMed Link: 15858154
Variant Present in the following documents:
  • Main text
View BVdb publication page