RET c.1900_1901delinsGC ;(p.C634A)

Variant ID: 10-43609948-TG-GC

NM_020975.4(RET):c.1900_1901delinsGC;(p.C634A)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


5P Strategies for Management of Multiple Endocrine Neoplasia Type 2: A Paradigm of Precision Medicine.

Frontiers In Endocrinology
Li, Shu-Yuan SY; Ding, Yi-Qiang YQ; Si, You-Liang YL; Ye, Mu-Jin MJ; Xu, Chen-Ming CM; Qi, Xiao-Ping XP
Publication Date: 2020

Variant appearance in text: MEN2A: C634a
PubMed Link: 33071967
Variant Present in the following documents:
  • fendo-11-543246.pdf
View BVdb publication page



Cushing Disease in a patient with Multiple Endocrine Neoplasia type 2B.

Journal Of Clinical And Translational Endocrinology Case Reports
Kasturi, Kannan K; Fernandes, Lucas L; Quezado, Martha M; Eid, Mary M; Marcus, Leigh L; Chittiboina, Prashant P; Rappaport, Mark M; Stratakis, Constantine A CA; Widemann, Brigitte B; Lodish, Maya M
Publication Date: 2017-06

Variant appearance in text: RET: C634A
PubMed Link: 28435794
Variant Present in the following documents:
  • Main text
View BVdb publication page



Comprehensive assessment of the disputed RET Y791F variant shows no association with medullary thyroid carcinoma susceptibility.

Endocrine-Related Cancer
Toledo, Rodrigo A RA; Hatakana, Roxanne R; Lourenço, Delmar M DM; Lindsey, Susan C SC; Camacho, Cleber P CP; Almeida, Marcio M; Lima, José V JV; Sekiya, Tomoko T; Garralda, Elena E; Naslavsky, Michel S MS; Yamamoto, Guilherme L GL; Lazar, Monize M; Meirelles, Osorio O; Sobreira, Tiago J P TJ; Lebrao, Maria Lucia ML; Duarte, Yeda A O YA; Blangero, John J; Zatz, Mayana M; Cerutti, Janete M JM; Maciel, Rui M B RM; Toledo, Sergio P A SP
Publication Date: 2015-02

Variant appearance in text: RET: C634A
PubMed Link: 25425582
Variant Present in the following documents:
  • supp_ERC-14-0491_Supplementary_table_4.xlsx, sheet 1
View BVdb publication page



2012 European thyroid association guidelines for genetic testing and its clinical consequences in medullary thyroid cancer.

European Thyroid Journal
Elisei, R R; Alevizaki, M M; Conte-Devolx, B B; Frank-Raue, K K; Leite, V V; Williams, G R GR
Publication Date: 2013-01

Variant appearance in text: RET: C634A
PubMed Link: 24783025
Variant Present in the following documents:
  • Main text
View BVdb publication page



A unique RET EXON 11 (G691S) polymorphism in an Indian patient with a collision tumor of the thyroid.

Diagnostic Pathology
Rekhi, Bharat B; Badhe, Rakesh R RR; Desouza, Maria Alina MA; Chaukar, Devendra D; D'Cruz, Anil K AK; Arya, Suprita S; Kane, S V SV
Publication Date: 2007-10-16

Variant appearance in text: RET: C634A
PubMed Link: 17939859
Variant Present in the following documents:
  • Main text
  • 1746-1596-2-39.pdf
View BVdb publication page