LDLR c.1202T>A ;(p.L401H)

Variant ID: 19-11223969-T-A

NM_000527.4(LDLR):c.1202T>A;(p.L401H)

This variant was identified in 17 publications

View GRCh38 version.




Publications:


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: 1202T>A; Leu401His
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Role of an automated screening tool for familial hypercholesterolemia in patients with premature coronary artery disease.

Atherosclerosis Plus
Jokiniitty, Antti A; Eskola, Markku M; Saarela, Tanja T; Huhtala, Heini H; Metso, Saara S
Publication Date: 2022-04

Variant appearance in text: LDLR: Leu401His
PubMed Link: 36644564
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Low-density lipoprotein receptor genotypes modify the sera metabolome of patients with homozygous familial hypercholesterolemia.

Iscience
Du, Zhiyong Z; Li, Fan F; Li, Linyi L; Wang, Yu Y; Li, Jianping J; Yang, Ya Y; Jiang, Long L; Wang, Luya L; Qin, Yanwen Y
Publication Date: 2022-11-18

Variant appearance in text: LDLR: 1202T>A; Leu401His
PubMed Link: 36325061
Variant Present in the following documents:
  • mmc2.xlsx, sheet 1
View BVdb publication page



Do Biobank Recall Studies Matter? Long-Term Follow-Up of Research Participants With Familial Hypercholesterolemia.

Frontiers In Genetics
Nurm, Miriam M; Reigo, Anu A; Nõukas, Margit M; Leitsalu, Liis L; Nikopensius, Tiit T; Palover, Marili M; Annilo, Tarmo T; Alver, Maris M; Saar, Aet A; Marandi, Toomas T; Ainla, Tiia T; Metspalu, Andres A; Esko, Tõnu T; Tõnisson, Neeme N
Publication Date: 2022

Variant appearance in text: LDLR: Leu401His; rs121908038
PubMed Link: 35928446
Variant Present in the following documents:
  • Main text
  • fgene-13-936131.pdf
View BVdb publication page



Analysis of the low density lipoprotein receptor gene (LDLR) mutation spectrum in Russian familial hypercholesterolemia.

Vavilovskii Zhurnal Genetiki I Selektsii
Vasilyev, V B VB; Zakharova, F M FM; Bogoslovskaya, T Yu TY; Mandelshtam, M Yu MY
Publication Date: 2022-05

Variant appearance in text: LDLR: 1202T>A; Leu401His; rs121908038
PubMed Link: 35774363
Variant Present in the following documents:
  • VJGB-26-2238.pdf
View BVdb publication page



Analysis of Rare Variants in Genes Related to Lipid Metabolism in Patients with Familial Hypercholesterolemia in Western Siberia (Russia).

Journal Of Personalized Medicine
Shakhtshneider, Elena E; Ivanoshchuk, Dinara D; Timoshchenko, Olga O; Orlov, Pavel P; Semaev, Sergey S; Valeev, Emil E; Goonko, Andrew A; Ladygina, Nataliya N; Voevoda, Mikhail M
Publication Date: 2021-11-19

Variant appearance in text: LDLR: 1202T>A; Leu401His; rs121908038
PubMed Link: 34834584
Variant Present in the following documents:
  • Main text
  • jpm-11-01232.pdf
View BVdb publication page



The Prevalence of Heterozygous Familial Hypercholesterolemia in Selected Regions of the Russian Federation: The FH-ESSE-RF Study.

Journal Of Personalized Medicine
Meshkov, Alexey N AN; Ershova, Alexandra I AI; Kiseleva, Anna V AV; Shalnova, Svetlana A SA; Drapkina, Oxana M OM; Boytsov, Sergey A SA; On Behalf Of The Fh-Esse-Rf Investigators,
Publication Date: 2021-05-24

Variant appearance in text: LDLR: 1202T>A; Leu401His; rs121908038
PubMed Link: 34074024
Variant Present in the following documents:
  • Main text
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: 1202T>A; Leu401His
PubMed Link: 34037665
Variant Present in the following documents:
  • jamacardiol-e211301-s001.pdf
View BVdb publication page



The LDLR, APOB, and PCSK9 Variants of Index Patients with Familial Hypercholesterolemia in Russia.

Genes
Meshkov, Alexey A; Ershova, Alexandra A; Kiseleva, Anna A; Zotova, Evgenia E; Sotnikova, Evgeniia E; Petukhova, Anna A; Zharikova, Anastasia A; Malyshev, Pavel P; Rozhkova, Tatyana T; Blokhina, Anastasia A; Limonova, Alena A; Ramensky, Vasily V; Divashuk, Mikhail M; Khasanova, Zukhra Z; Bukaeva, Anna A; Kurilova, Olga O; Skirko, Olga O; Pokrovskaya, Maria M; Mikova, Valeriya V; Snigir, Ekaterina E; Akinshina, Alexsandra A; Mitrofanov, Sergey S; Kashtanova, Daria D; Makarov, Valentin V; Kukharchuk, Valeriy V; Boytsov, Sergey S; Yudin, Sergey S; Drapkina, Oxana O
Publication Date: 2021-01-06

Variant appearance in text: LDLR: 1202T>A; Leu401His; rs121908038
PubMed Link: 33418990
Variant Present in the following documents:
  • Main text
View BVdb publication page



Familial Hypercholesterolemia in Russia: Three Decades of Genetic Studies.

Frontiers In Genetics
Vasilyev, Vadim V; Zakharova, Faina F; Bogoslovskay, Tatiana T; Mandelshtam, Mikhail M
Publication Date: 2020

Variant appearance in text: LDLR: 1202T>A; Leu401His
PubMed Link: 33391333
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of novel variants in the LDLR gene in Russian patients with familial hypercholesterolemia using targeted sequencing.

Biomedical Reports
Miroshnikova, Valentina V VV; Romanova, Olga V OV; Ivanova, Olga N ON; Fedyakov, Mikhail A MA; Panteleeva, Alexandra A AA; Barbitoff, Yury A YA; Muzalevskaya, Maria V MV; Urazgildeeva, Sorejya A SA; Gurevich, Victor S VS; Urazov, Stanislav P SP; Scherbak, Sergey G SG; Sarana, Andrey M AM; Semenova, Natalia A NA; Anisimova, Inga V IV; Guseva, Darya M DM; Pchelina, Sofya N SN; Glotov, Andrey S AS; Zakharova, Ekaterina Y EY; Glotov, Oleg S OS
Publication Date: 2021-01

Variant appearance in text: LDLR: 1202T>A; Leu401His; rs121908038
PubMed Link: 33269076
Variant Present in the following documents:
  • Main text
  • Supplementary_Data.pdf
  • br-14-01-01391.pdf
View BVdb publication page



Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports
Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA
Publication Date: 2020-09-21

Variant appearance in text: LDLR: L401H
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Mutation type classification and pathogenicity assignment of sixteen missense variants located in the EGF-precursor homology domain of the LDLR.

Scientific Reports
Galicia-Garcia, Unai U; Benito-Vicente, Asier A; Uribe, Kepa B KB; Jebari, Shifa S; Larrea-Sebal, Asier A; Alonso-Estrada, Rocio R; Aguilo-Arce, Joseba J; Ostolaza, Helena H; Palacios, Lourdes L; Martin, Cesar C
Publication Date: 2020-02-03

Variant appearance in text: LDLR: 1202T>A; Leu401His
PubMed Link: 32015373
Variant Present in the following documents:
  • 41598_2020_58734_MOESM1_ESM.pdf
View BVdb publication page



Recall by genotype and cascade screening for familial hypercholesterolemia in a population-based biobank from Estonia.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Alver, Maris M; Palover, Marili M; Saar, Aet A; Läll, Kristi K; Zekavat, Seyedeh Maryam SM; Tõnisson, Neeme N; Leitsalu, Liis L; Reigo, Anu A; Nikopensius, Tiit T; Ainla, Tiia T; Kals, Mart M; Mägi, Reedik R; Gabriel, Stacey B SB; Eha, Jaan J; Lander, Eric S ES; Irs, Alar A; Philippakis, Anthony A; Marandi, Toomas T; Natarajan, Pradeep P; Metspalu, Andres A; Kathiresan, Sekar S; Esko, Tõnu T
Publication Date: 2019-05

Variant appearance in text: LDLR: 1202T>A; Leu401His; rs121908038
PubMed Link: 30270359
Variant Present in the following documents:
  • 41436_2018_311_MOESM5_ESM.pdf
  • 41436_2018_311_MOESM7_ESM.pdf
  • 41436_2018_311_MOESM6_ESM.pdf
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: LDLR: 1202T>A; Leu401His
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: LDLR: L401H
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 4
View BVdb publication page



Familial hypercholesterolemia in St-Petersburg: the known and novel mutations found in the low density lipoprotein receptor gene in Russia.

Bmc Medical Genetics
Zakharova, Faina M FM; Damgaard, Dorte D; Mandelshtam, Michail Y MY; Golubkov, Valery I VI; Nissen, Peter H PH; Nilsen, Gitte G GG; Stenderup, Anette A; Lipovetsky, Boris M BM; Konstantinov, Vladimir O VO; Denisenko, Alexander D AD; Vasilyev, Vadim B VB; Faergeman, Ole O
Publication Date: 2005-02-08

Variant appearance in text: LDLR: 1202T>A
PubMed Link: 15701167
Variant Present in the following documents:
  • Main text
View BVdb publication page