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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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