GC c.52_53delinsAG ;(p.E18R)

Variant ID: 4-72649683-TC-CT

NM_000583.3(GC):c.52_53delinsAG;(p.E18R)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Effect of Mutations in GvpJ and GvpM on Gas Vesicle Formation of Halobacterium salinarum.

Frontiers In Microbiology
Jost, Alisa A; Knitsch, Regine R; Völkner, Kerstin K; Pfeifer, Felicitas F
Publication Date: 2021

Variant appearance in text: GC: E18R
PubMed Link: 34975818
Variant Present in the following documents:
  • Data_Sheet_1.pdf
View BVdb publication page



Interpretation of BRCA2 Splicing Variants: A Case Series of Challenging Variant Interpretations and the Importance of Functional RNA Analysis.

Familial Cancer
Nix, Paola P; Mundt, Erin E; Coffee, Bradford B; Goossen, Elizabeth E; Warf, Bryan M BM; Brown, Krystal K; Bowles, Karla K; Roa, Benjamin B
Publication Date: 2021-01-20

Variant appearance in text: GC: E18R
PubMed Link: 33469799
Variant Present in the following documents:
  • 10689_2020_Article_224.pdf
View BVdb publication page



Interpretation of BRCA2 Splicing Variants: A Case Series of Challenging Variant Interpretations and the Importance of Functional RNA Analysis.

Familial Cancer
Nix, Paola P; Mundt, Erin E; Coffee, Bradford B; Goossen, Elizabeth E; Warf, Bryan M BM; Brown, Krystal K; Bowles, Karla K; Roa, Benjamin B
Publication Date: 2022-01

Variant appearance in text: GC: E18R
PubMed Link: 33469799
Variant Present in the following documents:
  • 10689_2020_Article_224.pdf
View BVdb publication page