APOB c.5690G>A ;(p.R1897H)

Variant ID: 2-21234050-C-T

NM_000384.2(APOB):c.5690G>A;(p.R1897H)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01

Variant appearance in text: N/A
PubMed Link: 36413997
Variant Present in the following documents:
View BVdb publication page



Whole-exome sequencing of epithelial ovarian carcinomas differing in resistance to platinum therapy.

Life Science Alliance
Hlaváč, Viktor V; Holý, Petr P; Václavíková, Radka R; Rob, Lukáš L; Hruda, Martin M; Mrhalová, Marcela M; Černaj, Petr P; Bouda, Jiří J; Souček, Pavel P
Publication Date: 2022-10-13

Variant appearance in text: APOB: Arg1897His
PubMed Link: 36229065
Variant Present in the following documents:
  • LSA-2022-01551_TableS16.xlsx, sheet 1
View BVdb publication page



Population-based meta-analysis and gene-set enrichment identifies FXR/RXR pathway as common to fatty liver disease and serum lipids.

Hepatology Communications
Handelman, Samuel K SK; Puentes, Yindra M YM; Kuppa, Annapurna A; Chen, Yanhua Y; Du, Xiaomeng X; Feitosa, Mary F MF; Palmer, Nicholette D ND; Speliotes, Elizabeth K EK
Publication Date: 2022-11

Variant appearance in text: APOB: R1897H; rs199510126
PubMed Link: 36098472
Variant Present in the following documents:
  • HEP4-6-3120-s001.xlsx, sheet 6
View BVdb publication page



Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Bmc Medical Genomics
Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA
Publication Date: 2020-02-10

Variant appearance in text: APOB: 5690G>A; Arg1897His
PubMed Link: 32041611
Variant Present in the following documents:
  • 12920_2020_669_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page



Global genetic diversity of human apolipoproteins and effects on cardiovascular disease risk.

Journal Of Lipid Research
Zhou, Yitian Y; Mägi, Reedik R; Milani, Lili L; Lauschke, Volker M VM
Publication Date: 2018-10

Variant appearance in text: rs199510126
PubMed Link: 30076208
Variant Present in the following documents:
  • 10.1194_P086710_jlr.P086710-4.xlsx, sheet 1
View BVdb publication page



Integrative genomic profiling of large-cell neuroendocrine carcinomas reveals distinct subtypes of high-grade neuroendocrine lung tumors.

Nature Communications
George, Julie J; Walter, Vonn V; Peifer, Martin M; Alexandrov, Ludmil B LB; Seidel, Danila D; Leenders, Frauke F; Maas, Lukas L; Müller, Christian C; Dahmen, Ilona I; Delhomme, Tiffany M TM; Ardin, Maude M; Leblay, Noemie N; Byrnes, Graham G; Sun, Ruping R; De Reynies, Aurélien A; McLeer-Florin, Anne A; Bosco, Graziella G; Malchers, Florian F; Menon, Roopika R; Altmüller, Janine J; Becker, Christian C; Nürnberg, Peter P; Achter, Viktor V; Lang, Ulrich U; Schneider, Peter M PM; Bogus, Magdalena M; Soloway, Matthew G MG; Wilkerson, Matthew D MD; Cun, Yupeng Y; McKay, James D JD; Moro-Sibilot, Denis D; Brambilla, Christian G CG; Lantuejoul, Sylvie S; Lemaitre, Nicolas N; Soltermann, Alex A; Weder, Walter W; Tischler, Verena V; Brustugun, Odd Terje OT; Lund-Iversen, Marius M; Helland, Åslaug Å; Solberg, Steinar S; Ansén, Sascha S; Wright, Gavin G; Solomon, Benjamin B; Roz, Luca L; Pastorino, Ugo U; Petersen, Iver I; Clement, Joachim H JH; Sänger, Jörg J; Wolf, Jürgen J; Vingron, Martin M; Zander, Thomas T; Perner, Sven S; Travis, William D WD; Haas, Stefan A SA; Olivier, Magali M; Foll, Matthieu M; Büttner, Reinhard R; Hayes, David Neil DN; Brambilla, Elisabeth E; Fernandez-Cuesta, Lynnette L; Thomas, Roman K RK
Publication Date: 2018-03-13

Variant appearance in text: APOB: 5690G>A; R1897H
PubMed Link: 29535388
Variant Present in the following documents:
  • 41467_2018_3099_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: APOB: 5690G>A; R1897H
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



Heterogeneity of genomic evolution and mutational profiles in multiple myeloma.

Nature Communications
Bolli, Niccolo N; Avet-Loiseau, Hervé H; Wedge, David C DC; Van Loo, Peter P; Alexandrov, Ludmil B LB; Martincorena, Inigo I; Dawson, Kevin J KJ; Iorio, Francesco F; Nik-Zainal, Serena S; Bignell, Graham R GR; Hinton, Jonathan W JW; Li, Yilong Y; Tubio, Jose M C JM; McLaren, Stuart S; O' Meara, Sarah S; Butler, Adam P AP; Teague, Jon W JW; Mudie, Laura L; Anderson, Elizabeth E; Rashid, Naim N; Tai, Yu-Tzu YT; Shammas, Masood A MA; Sperling, Adam S AS; Fulciniti, Mariateresa M; Richardson, Paul G PG; Parmigiani, Giovanni G; Magrangeas, Florence F; Minvielle, Stephane S; Moreau, Philippe P; Attal, Michel M; Facon, Thierry T; Futreal, P Andrew PA; Anderson, Kenneth C KC; Campbell, Peter J PJ; Munshi, Nikhil C NC
Publication Date: 2014

Variant appearance in text: APOB: 5690G>A; R1897H
PubMed Link: 24429703
Variant Present in the following documents:
  • ncomms3997-s2.xlsx, sheet 1
View BVdb publication page