LDLR c.2416dup ;(p.V806Gfs*11)

Variant ID: 19-11240210-T-TG

NM_000527.4(LDLR):c.2416dup;(p.V806Gfs*11)

This variant was identified in 15 publications

View GRCh38 version.




Publications:


Secondary findings in a large Pakistani cohort tested with whole genome sequencing.

Life Science Alliance
Skrahin, Aliaksandr A; Cheema, Huma Arshad HA; Hussain, Maqbool M; Rana, Nuzhat Noureen NN; Rehman, Khalil Ur KU; Kumar, Raman R; Oprea, Gabriela G; Ameziane, Najim N; Rolfs, Arndt A; Skrahina, Volha V
Publication Date: 2023-03

Variant appearance in text: LDLR: 2416dup; Val806Glyfs*11
PubMed Link: 36635046
Variant Present in the following documents:
  • LSA-2022-01673_TableS2.xlsx, sheet 1
View BVdb publication page



Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes.

Nature Communications
Halford, Jennifer L JL; Morrill, Valerie N VN; Choi, Seung Hoan SH; Jurgens, Sean J SJ; Melloni, Giorgio G; Marston, Nicholas A NA; Weng, Lu-Chen LC; Nauffal, Victor V; Hall, Amelia W AW; Gunn, Sophia S; Austin-Tse, Christina A CA; Pirruccello, James P JP; Khurshid, Shaan S; Rehm, Heidi L HL; Benjamin, Emelia J EJ; Boerwinkle, Eric E; Brody, Jennifer A JA; Correa, Adolfo A; Fornwalt, Brandon K BK; Gupta, Namrata N; Haggerty, Christopher M CM; Harris, Stephanie S; Heckbert, Susan R SR; Hong, Charles C CC; Kooperberg, Charles C; Lin, Henry J HJ; Loos, Ruth J F RJF; Mitchell, Braxton D BD; Morrison, Alanna C AC; Post, Wendy W; Psaty, Bruce M BM; Redline, Susan S; Rice, Kenneth M KM; Rich, Stephen S SS; Rotter, Jerome I JI; Schnatz, Peter F PF; Soliman, Elsayed Z EZ; Sotoodehnia, Nona N; Wong, Eugene K EK; , ; Sabatine, Marc S MS; Ruff, Christian T CT; Lunetta, Kathryn L KL; Ellinor, Patrick T PT; Lubitz, Steven A SA
Publication Date: 2022-08-30

Variant appearance in text: LDLR: 2416dup; Val806fs
PubMed Link: 36042188
Variant Present in the following documents:
  • 41467_2022_32009_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Characterization of Polyvascular Disease in Heterozygous Familial Hypercholesterolemia: Its Association With Circulating Lipoprotein(a) Levels.

Journal Of The American Heart Association
Funabashi, Sayaka S; Kataoka, Yu Y; Hori, Mika M; Ogura, Masatsune M; Doi, Takahito T; Noguchi, Teruo T; Harada-Shiba, Mariko M
Publication Date: 2022-08-16

Variant appearance in text: LDLR: 2416dup; Val806Glyfs*11
PubMed Link: 35929461
Variant Present in the following documents:
  • JAH3-11-e025232.pdf
  • JAH3-11-e025232-s001.pdf
View BVdb publication page



Identification of New Genetic Determinants in Pediatric Patients with Familial Hypercholesterolemia Using a Custom NGS Panel.

Genes
Rutkowska, Lena L; Sałacińska, Kinga K; Salachna, Dominik D; Matusik, Paweł P; Pinkier, Iwona I; Kępczyński, Łukasz Ł; Piotrowicz, Małgorzata M; Starostecka, Ewa E; Lewiński, Andrzej A; Gach, Agnieszka A
Publication Date: 2022-06-01

Variant appearance in text: LDLR: 2416dupG
PubMed Link: 35741760
Variant Present in the following documents:
  • Main text
  • genes-13-00999.pdf
View BVdb publication page



Establishing the Mutational Spectrum of Hungarian Patients with Familial Hypercholesterolemia.

Genes
Madar, László L; Juhász, Lilla L; Szűcs, Zsuzsanna Z; Kerkovits, Lóránt L; Harangi, Mariann M; Balogh, István I
Publication Date: 2022-01-15

Variant appearance in text: LDLR: 2416dupG; Val806Glyfs*11
PubMed Link: 35052492
Variant Present in the following documents:
  • Main text
  • genes-13-00153.pdf
View BVdb publication page



Establishing the Mutational Spectrum of Hungarian Patients with Familial Hypercholesterolemia.

Genes
Madar, László L; Juhász, Lilla L; Szűcs, Zsuzsanna Z; Kerkovits, Lóránt L; Harangi, Mariann M; Balogh, István I
Publication Date: 2022-01-15

Variant appearance in text: LDLR: 2416dupG; Val806Glyfs*11
PubMed Link: 35052492
Variant Present in the following documents:
  • Main text
  • genes-13-00153.pdf
View BVdb publication page



Shortcomings on genetic testing of Familial hypercholesterolemia (FH) in India: Can we collaborate to establish Indian FH registry?

Indian Heart Journal
Reddy, Lakshmi Lavanya LL; Shah, Swarup A V SAV; Ashavaid, Tester F TF
Publication Date: 2022

Variant appearance in text: LDLR: 2416_2417insG
PubMed Link: 34875256
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Phenotypic and Genetic Analyses of Korean Patients with Familial Hypercholesterolemia: Results from the KFH Registry 2020.

Journal Of Atherosclerosis And Thrombosis
Kim, Hyoeun H; Lee, Chan Joo CJ; Kim, Sang-Hyun SH; Kim, Jang Young JY; Choi, Sung Hee SH; Kang, Hyun-Jae HJ; Park, Kyong Soo KS; Cho, Byung Ryul BR; Kim, Byung Jin BJ; Sung, Ki Chul KC; Jeong, In-Kyung IK; Jeong, Jin-Ok JO; Bae, Jang-Whan JW; Park, Jung Mi JM; Lee, Yunbeom Y; Jeong, Ilecheon I; Han, Hyojun H; Lee, Ji Hyun JH; Lee, Sang-Hak SH
Publication Date: 2022-08-01

Variant appearance in text: LDLR: 2416dupG; V806fs
PubMed Link: 34456200
Variant Present in the following documents:
  • jat-29-1176.pdf
View BVdb publication page



Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.

Bmc Medicine
Haverfield, Eden V EV; Esplin, Edward D ED; Aguilar, Sienna J SJ; Hatchell, Kathryn E KE; Ormond, Kelly E KE; Hanson-Kahn, Andrea A; Atwal, Paldeep S PS; Macklin-Mantia, Sarah S; Hines, Stephanie S; Sak, Caron W-M CW; Tucker, Steven S; Bleyl, Steven B SB; Hulick, Peter J PJ; Gordon, Ora K OK; Velsher, Lea L; Gu, Jessica Y J JYJ; Weissman, Scott M SM; Kruisselbrink, Teresa T; Abel, Christopher C; Kettles, Michele M; Slavotinek, Anne A; Mendelsohn, Bryce A BA; Green, Robert C RC; Aradhya, Swaroop S; Nussbaum, Robert L RL
Publication Date: 2021-08-18

Variant appearance in text: LDLR: 2416dup; Val806Glyfs
PubMed Link: 34404389
Variant Present in the following documents:
  • 12916_2021_1999_MOESM2_ESM.pdf
View BVdb publication page



Limited-Variant Screening vs Comprehensive Genetic Testing for Familial Hypercholesterolemia Diagnosis.

Jama Cardiology
Sturm, Amy C AC; Truty, Rebecca R; Callis, Thomas E TE; Aguilar, Sienna S; Esplin, Edward D ED; Garcia, Sarah S; Haverfield, Eden V EV; Morales, Ana A; Nussbaum, Robert L RL; Rojahn, Susan S; Vatta, Matteo M; Rader, Daniel J DJ
Publication Date: 2021-08-01

Variant appearance in text: LDLR: 2416dup; Val806Glyfs
PubMed Link: 34037665
Variant Present in the following documents:
  • jamacardiol-e211301-s001.pdf
View BVdb publication page



Patients With LDLR and PCSK9 Gene Variants Experienced Higher Incidence of Cardiovascular Outcomes in Heterozygous Familial Hypercholesterolemia.

Journal Of The American Heart Association
Doi, Takahito T; Hori, Mika M; Harada-Shiba, Mariko M; Kataoka, Yu Y; Onozuka, Daisuke D; Nishimura, Kunihiro K; Nishikawa, Ryo R; Tsuda, Kosuke K; Ogura, Masatsune M; Son, Cheol C; Miyamoto, Yoshihiro Y; Noguchi, Teruo T; Shimokawa, Hiroaki H; Yasuda, Satoshi S
Publication Date: 2021-02-16

Variant appearance in text: LDLR: 2416dup; Val806Glyfs*11
PubMed Link: 33533259
Variant Present in the following documents:
  • JAH3-10-e018263.pdf
  • JAH3-10-e018263-s001.pdf
View BVdb publication page



Verification of Underlying Genetic Cause in a Cohort of Russian Patients with Familial Hypercholesterolemia Using Targeted Next Generation Sequencing.

Journal Of Cardiovascular Development And Disease
Semenova, Anna E AE; Sergienko, Igor V IV; García-Giustiniani, Diego D; Monserrat, Lorenzo L; Popova, Anna B AB; Nozadze, Diana N DN; Ezhov, Marat V MV
Publication Date: 2020-05-14

Variant appearance in text: LDLR: 2416_2417insG; Val806Glyfs*11
PubMed Link: 32423031
Variant Present in the following documents:
  • Main text
  • jcdd-07-00016-s001.pdf
  • jcdd-07-00016.pdf
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: LDLR: 2416dupG
PubMed Link: 32041611
Variant Present in the following documents:
  • 12920_2020_669_MOESM1_ESM.xlsx, sheet 3
  • 12920_2020_669_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page



In silico prediction of blood cholesterol levels from genotype data.

Plos One
Reggiani, Francesco F; Carraro, Marco M; Belligoli, Anna A; Sanna, Marta M; Dal Prà, Chiara C; Favaretto, Francesca F; Ferrari, Carlo C; Vettor, Roberto R; Tosatto, Silvio C E SCE
Publication Date: 2020

Variant appearance in text: LDLR: Val806Glyfs*11
PubMed Link: 32040480
Variant Present in the following documents:
  • pone.0227191.s001.xlsx, sheet 1
View BVdb publication page



The Genetic Spectrum of Familial Hypercholesterolemia (FH) in the Iranian Population.

Scientific Reports
Fairoozy, R H RH; Futema, M M; Vakili, R R; Abbaszadegan, M R MR; Hosseini, S S; Aminzadeh, M M; Zaeri, H H; Mobini, M M; Humphries, S E SE; Sahebkar, A A
Publication Date: 2017-12-06

Variant appearance in text: LDLR: 2416_2417insG; Val806Glyfs*11
PubMed Link: 29213121
Variant Present in the following documents:
  • Main text
  • 41598_2017_17181_MOESM1_ESM.pdf
  • 41598_2017_Article_17181.pdf
View BVdb publication page



The genetic spectrum of familial hypercholesterolemia in Pakistan.

Clinica Chimica Acta; International Journal Of Clinical Chemistry
Ahmed, Waqas W; Whittall, Ros R; Riaz, Moeen M; Ajmal, Muhammad M; Sadeque, Ahmed A; Ayub, Humaira H; Qamar, Raheel R; Humphries, Steve E SE
Publication Date: 2013-06-05

Variant appearance in text: LDLR: Val806GlyfsX11
PubMed Link: 23535506
Variant Present in the following documents:
  • Main text
View BVdb publication page