RET c.1513_1518del ;(p.E505_G506del)

Variant ID: 10-43606902-TGGAGGG-T

NM_020975.4(RET):c.1513_1518del;(p.E505_G506del)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Evaluation of in silico pathogenicity prediction tools for the classification of small in-frame indels.

Bmc Medical Genomics
Cannon, S S; Williams, M M; Gunning, A C AC; Wright, C F CF
Publication Date: 2023-02-28

Variant appearance in text: RET: 1513_1518del
PubMed Link: 36855133
Variant Present in the following documents:
  • 12920_2023_1454_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Results and Clinical Interpretation of Germline RET Analysis in a Series of Patients with Medullary Thyroid Carcinoma: The Challenge of the Variants of Uncertain Significance.

Cancers
Innella, Giovanni G; Rossi, Cesare C; Romagnoli, Maria M; Repaci, Andrea A; Bianchi, Davide D; Cantarini, Maria Elena ME; Martorana, Davide D; Godino, Lea L; Pession, Andrea A; Percesepe, Antonio A; Pagotto, Uberto U; Turchetti, Daniela D
Publication Date: 2020-11-05

Variant appearance in text: RET: 1513_1518delGAGGGG
PubMed Link: 33167350
Variant Present in the following documents:
  • Main text
  • cancers-12-03268.pdf
View BVdb publication page