GC c.1333C>G ;(p.H445D)

Variant ID: 4-72618297-G-C

NM_000583.3(GC):c.1333C>G;(p.H445D)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Multiplex Assay for Simultaneous Detection of Antibodies against Crimean-Congo Hemorrhagic Fever Virus Nucleocapsid Protein and Glycoproteins in Ruminants.

Microbiology Spectrum
Hoste, Alexis C R ACR; Djadjovski, Igor I; Jiménez-Clavero, Miguel Ángel MÁ; Rueda, Paloma P; Barr, John N JN; Sastre, Patricia P
Publication Date: 2023-02-23

Variant appearance in text: GC: H445D
PubMed Link: 36815788
Variant Present in the following documents:
  • spectrum.02600-22.pdf
View BVdb publication page



Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics
Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK
Publication Date: 2022-09

Variant appearance in text: GC: 1333C>G
PubMed Link: 35982159
Variant Present in the following documents:
  • 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Clinical relevance of molecular characteristics in Burkitt lymphoma differs according to age.

Nature Communications
Burkhardt, Birgit B; Michgehl, Ulf U; Rohde, Jonas J; Erdmann, Tabea T; Berning, Philipp P; Reutter, Katrin K; Rohde, Marius M; Borkhardt, Arndt A; Burmeister, Thomas T; Dave, Sandeep S; Tzankov, Alexandar A; Dugas, Martin M; Sandmann, Sarah S; Fend, Falko F; Finger, Jasmin J; Mueller, Stephanie S; Gökbuget, Nicola N; Haferlach, Torsten T; Kern, Wolfgang W; Hartmann, Wolfgang W; Klapper, Wolfram W; Oschlies, Ilske I; Richter, Julia J; Kontny, Udo U; Lutz, Mathias M; Maecker-Kolhoff, Britta B; Ott, German G; Rosenwald, Andreas A; Siebert, Reiner R; von Stackelberg, Arend A; Strahm, Brigitte B; Woessmann, Wilhelm W; Zimmermann, Martin M; Zapukhlyak, Myroslav M; Grau, Michael M; Lenz, Georg G
Publication Date: 2022-07-06

Variant appearance in text: GC: 1333C>G
PubMed Link: 35794096
Variant Present in the following documents:
  • 41467_2022_31355_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



Thin-Layer-Agar-Based Direct Phenotypic Drug Susceptibility Testing on Sputum in Eswatini Rapidly Detects Mycobacterium tuberculosis Growth and Rifampicin Resistance Otherwise Missed by WHO-Endorsed Diagnostic Tests.

Antimicrobial Agents And Chemotherapy
Ardizzoni, E E; Ariza, E E; Mulengwa, D D; Mpala, Q Q; de La Tour, R R; Maphalala, G G; Varaine, F F; Kerschberger, B B; Graulus, P P; Page, A L AL; Niemann, S S; Dreyer, V V; Van Deun, A A; Decroo, T T; Rigouts, L L; de Jong, B C BC
Publication Date: 2021-05-18

Variant appearance in text: GC: H445D
PubMed Link: 33722892
Variant Present in the following documents:
  • Main text
  • aac.02263-20.pdf
View BVdb publication page



Whole Genome Sequence Analysis of a Large Isoniazid-Resistant Tuberculosis Outbreak in London: A Retrospective Observational Study.

Plos Medicine
Casali, Nicola N; Broda, Agnieszka A; Harris, Simon R SR; Parkhill, Julian J; Brown, Timothy T; Drobniewski, Francis F
Publication Date: 2016-10

Variant appearance in text: GC: H445D
PubMed Link: 27701423
Variant Present in the following documents:
  • Main text
  • pmed.1002137.pdf
View BVdb publication page