RET c.2943C>G ;(p.Y981*)

Variant ID: 10-43620334-C-G

NM_020975.4(RET):c.2943C>G;(p.Y981*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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: 2943C>G; Y981X
PubMed Link: 22648184
Variant Present in the following documents:
  • Main text
View BVdb publication page



Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability.

American Journal Of Human Genetics
Emison, Eileen Sproat ES; Garcia-Barcelo, Merce M; Grice, Elizabeth A EA; Lantieri, Francesca F; Amiel, Jeanne J; Burzynski, Grzegorz G; Fernandez, Raquel M RM; Hao, Li L; Kashuk, Carl C; West, Kristen K; Miao, Xiaoping X; Tam, Paul K H PK; Griseri, Paola P; Ceccherini, Isabella I; Pelet, Anna A; Jannot, Anne-Sophie AS; de Pontual, Loic L; Henrion-Caude, Alexandra A; Lyonnet, Stanislas S; Verheij, Joke B G M JB; Hofstra, Robert M W RM; AntiƱolo, Guillermo G; Borrego, Salud S; McCallion, Andrew S AS; Chakravarti, Aravinda A
Publication Date: 2010-07-09

Variant appearance in text: RET: Y981X
PubMed Link: 20598273
Variant Present in the following documents:
  • Main text
View BVdb publication page