RET c.678C>T ;(p.R226=)

Variant ID: 10-43600452-C-T

NM_020975.4(RET):c.678C>T;(p.R226=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Multiple endocrine neoplasia type 4: a new member of the MEN family.

Endocrine Connections
Singeisen, Hélène H; Renzulli, Mariko Melanie MM; Pavlicek, Vojtech V; Probst, Pascal P; Hauswirth, Fabian F; Muller, Markus K MK; Adamczyk, Magdalene M; Weber, Achim A; Kaderli, Reto Martin RM; Renzulli, Pietro P
Publication Date: 2022-12-01

Variant appearance in text: RET: 678C>T
PubMed Link: 36520683
Variant Present in the following documents:
  • EC-22-0411.pdf
View BVdb publication page



A novel germline CDKN1B mutation causing multiple endocrine tumors: clinical, genetic and functional characterization.

Human Mutation
Molatore, Sara S; Marinoni, Ilaria I; Lee, Misu M; Pulz, Elke E; Ambrosio, Maria Rosaria MR; degli Uberti, Ettore C EC; Zatelli, Maria Chiara MC; Pellegata, Natalia S NS
Publication Date: 2010-11

Variant appearance in text: RET: 678C>T
PubMed Link: 20824794
Variant Present in the following documents:
  • Main text
  • humu0031-E1825.pdf
View BVdb publication page