RET c.2390A>T ;(p.D797V)

Variant ID: 10-43613926-A-T

NM_020975.4(RET):c.2390A>T;(p.D797V)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Amplicon sequencing of colorectal cancer: variant calling in frozen and formalin-fixed samples.

Plos One
Betge, Johannes J; Kerr, Grainne G; Miersch, Thilo T; Leible, Svenja S; Erdmann, Gerrit G; Galata, Christian L CL; Zhan, Tianzuo T; Gaiser, Timo T; Post, Stefan S; Ebert, Matthias P MP; Horisberger, Karoline K; Boutros, Michael M
Publication Date: 2015

Variant appearance in text: RET: D797V
PubMed Link: 26010451
Variant Present in the following documents:
  • pone.0127146.s014.xlsx, sheet 3
View BVdb publication page



Hirschsprung's disease and variants in genes that regulate enteric neural crest cell proliferation, migration and differentiation.

Journal Of Human Genetics
Carter, Tonia C TC; Kay, Denise M DM; Browne, Marilyn L ML; Liu, Aiyi A; Romitti, Paul A PA; Kuehn, Devon D; Conley, Mary R MR; Caggana, Michele M; Druschel, Charlotte M CM; Brody, Lawrence C LC; Mills, James L JL
Publication Date: 2012-08

Variant appearance in text: RET: 2390A>T; D797V
PubMed Link: 22648184
Variant Present in the following documents:
  • Main text
View BVdb publication page