LDLR c.409G>A ;(p.G137S)

Variant ID: 19-11215991-G-A

NM_000527.4(LDLR):c.409G>A;(p.G137S)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


The landscape of tolerated genetic variation in humans and primates.

Biorxiv : The Preprint Server For Biology
Gao, Hong H; Hamp, Tobias T; Ede, Jeffrey J; Schraiber, Joshua G JG; McRae, Jeremy J; Singer-Berk, Moriel M; Yang, Yanshen Y; Dietrich, Anastasia A; Fiziev, Petko P; Kuderna, Lukas L; Sundaram, Laksshman L; Wu, Yibing Y; Adhikari, Aashish A; Field, Yair Y; Chen, Chen C; Batzoglou, Serafim S; Aguet, Francois F; Lemire, Gabrielle G; Reimers, Rebecca R; Balick, Daniel D; Janiak, Mareike C MC; Kuhlwilm, Martin M; Orkin, Joseph D JD; Manu, Shivakumara S; Valenzuela, Alejandro A; Bergman, Juraj J; Rouselle, Marjolaine M; Silva, Felipe Ennes FE; Agueda, Lidia L; Blanc, Julie J; Gut, Marta M; de Vries, Dorien D; Goodhead, Ian I; Harris, R Alan RA; Raveendran, Muthuswamy M; Jensen, Axel A; Chuma, Idriss S IS; Horvath, Julie J; Hvilsom, Christina C; Juan, David D; Frandsen, Peter P; de Melo, Fabiano R FR; Bertuol, Fabricio F; Byrne, Hazel H; Sampaio, Iracilda I; Farias, Izeni I; Valsecchi do Amaral, João J; Messias, Mariluce M; da Silva, Maria N F MNF; Trivedi, Mihir M; Rossi, Rogerio R; Hrbek, Tomas T; Andriaholinirina, Nicole N; Rabarivola, Clément J CJ; Zaramody, Alphonse A; Jolly, Clifford J CJ; Phillips-Conroy, Jane J; Wilkerson, Gregory G; Abee, Christian C; Simmons, Joe H JH; Fernandez-Duque, Eduardo E; Kanthaswamy, Ee E; Shiferaw, Fekadu F; Wu, Dongdong D; Zhou, Long L; Shao, Yong Y; Zhang, Guojie G; Keyyu, Julius D JD; Knauf, Sascha S; Le, Minh D MD; Lizano, Esther E; Merker, Stefan S; Navarro, Arcadi A; Batallion, Thomas T; Nadler, Tilo T; Khor, Chiea Chuen CC; Lee, Jessica J; Tan, Patrick P; Lim, Weng Khong WK; Kitchener, Andrew C AC; Zinner, Dietmar D; Gut, Ivo I; Melin, Amanda A; Guschanski, Katerina K; Schierup, Mikkel Heide MH; Beck, Robin M D RMD; Umapathy, Govindhaswamy G; Roos, Christian C; Boubli, Jean P JP; Lek, Monkol M; Sunyaev, Shamil S; O'Donnell, Anne A; Rehm, Heidi H; Xu, Jinbo J; Rogers, Jeffrey J; Marques-Bonet, Tomas T; Farh, Kyle Kai-How KK
Publication Date: 2023-05-02

Variant appearance in text: LDLR: 409G>A; Gly137Ser
PubMed Link: 37205491
Variant Present in the following documents:
  • media-2.xlsx, sheet 1
View BVdb publication page



Dyslipidemia and the preventive potential in the Greenlandic population.

Atherosclerosis Plus
Bundgaard, Johan Skov JS; Jørgensen, Marit E ME; Andersen, Kristine K; Bundgaard, Henning H; Geisler, Uka Wilhjelm UW; Pedersen, Michael Lynge ML
Publication Date: 2023-03

Variant appearance in text: LDLR: G137S
PubMed Link: 36969703
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: LDLR: 409G>A; Gly137Ser
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



An LDLR missense variant poses high risk of familial hypercholesterolemia in 30% of Greenlanders and offers potential of early cardiovascular disease intervention.

Hgg Advances
Jørsboe, Emil E; Andersen, Mette K MK; Skotte, Line L; Stæger, Frederik F FF; Færgeman, Nils J NJ; Hanghøj, Kristian K; Santander, Cindy G CG; Senftleber, Ninna K NK; Diaz, Lars J LJ; Overvad, Maria M; Waples, Ryan K RK; Geller, Frank F; Bjerregaard, Peter P; Melbye, Mads M; Larsen, Christina V L CVL; Feenstra, Bjarke B; Anders Koch, ; Jørgensen, Marit E ME; Grarup, Niels N; Moltke, Ida I; Albrechtsen, Anders A; Hansen, Torben T
Publication Date: 2022-10-13

Variant appearance in text: LDLR: G137S
PubMed Link: 36267056
Variant Present in the following documents:
  • Main text
  • mmc1.pdf
  • mmc3.pdf
  • main.pdf
View BVdb publication page



Residues 140-142, 199-200, 222-223, and 262 in the Surface Glycoprotein of Subgroup A Avian Leukosis Virus Are the Key Sites Determining Tva Receptor Binding Affinity and Infectivity.

Frontiers In Microbiology
Li, Jinqun J; Chen, Jian J; Dong, Xinyi X; Liang, Canxin C; Guo, Yanyan Y; Chen, Xiang X; Huang, Mengyu M; Liao, Ming M; Cao, Weisheng W
Publication Date: 2022

Variant appearance in text: LDLR: G137S
PubMed Link: 35572683
Variant Present in the following documents:
  • Main text
  • fmicb-13-868377.pdf
View BVdb publication page



Large-Scale Screening for Monogenic and Clinically Defined Familial Hypercholesterolemia in Iceland.

Arteriosclerosis, Thrombosis, And Vascular Biology
Björnsson, Eythór E; Thorgeirsson, Guðmundur G; Helgadóttir, Anna A; Thorleifsson, Guðmar G; Sveinbjörnsson, Garðar G; Kristmundsdóttir, Snaedís S; Jónsson, Hákon H; Jónasdóttir, Aðalbjörg A; Jónasdóttir, Áslaug Á; Sigurðsson, Ásgeir Á; Guðnason, Thórarinn T; Ólafsson, Ísleifur Í; Sigurðsson, Emil L EL; Sigurðardóttir, Ólöf Ó; Viðarsson, Brynjar B; Baldvinsson, Magnús M; Bjarnason, Ragnar R; Danielsen, Ragnar R; Matthíasson, Stefán E SE; Thórarinsson, Björn L BL; Grétarsdóttir, Sólveig S; Steinthórsdóttir, Valgerður V; Halldórsson, Bjarni V BV; Andersen, Karl K; Arnar, Davíð O DO; Jónsdóttir, Ingileif I; Guðbjartsson, Daníel F DF; Hólm, Hilma H; Thorsteinsdóttir, Unnur U; Sulem, Patrick P; Stefánsson, Kári K
Publication Date: 2021-10

Variant appearance in text: LDLR: Gly137Ser
PubMed Link: 34407635
Variant Present in the following documents:
  • atv-41-2616-s001.pdf
  • atv-41-2616.pdf
View BVdb publication page



Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes.

Plos Genetics
Byrjalsen, Anna A; Hansen, Thomas V O TVO; Stoltze, Ulrik K UK; Mehrjouy, Mana M MM; Barnkob, Nanna Moeller NM; Hjalgrim, Lisa L LL; Mathiasen, René R; Lautrup, Charlotte K CK; Gregersen, Pernille A PA; Hasle, Henrik H; Wehner, Peder S PS; Tuckuviene, Ruta R; Sackett, Peter Wad PW; Laspiur, Adrian O AO; Rossing, Maria M; Marvig, Rasmus L RL; Tommerup, Niels N; Olsen, Tina Elisabeth TE; Scheie, David D; Gupta, Ramneek R; Gerdes, Anne-Marie AM; Schmiegelow, Kjeld K; Wadt, Karin K
Publication Date: 2020-12

Variant appearance in text: LDLR: 409G>A; Gly137Ser
PubMed Link: 33332384
Variant Present in the following documents:
  • Main text
  • pgen.1009231.pdf
View BVdb publication page



Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Publication Date: 2019-02-07

Variant appearance in text: LDLR: G137S
PubMed Link: 30665703
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction.

Plos Genetics
Thormaehlen, Aenne S AS; Schuberth, Christian C; Won, Hong-Hee HH; Blattmann, Peter P; Joggerst-Thomalla, Brigitte B; Theiss, Susanne S; Asselta, Rosanna R; Duga, Stefano S; Merlini, Pier Angelica PA; Ardissino, Diego D; Lander, Eric S ES; Gabriel, Stacey S; Rader, Daniel J DJ; Peloso, Gina M GM; Pepperkok, Rainer R; Kathiresan, Sekar S; Runz, Heiko H
Publication Date: 2015-02

Variant appearance in text: LDLR: G137S
PubMed Link: 25647241
Variant Present in the following documents:
  • pgen.1004855.s019.xlsx, sheet 1
View BVdb publication page