Variant ID: 19-11221457-G-C

NM_000527.4(LDLR):c.1060+10G>C

This variant was identified in 13 publications




Publications:


Recessive Rare Variants in Deoxyhypusine Synthase, an Enzyme Involved in the Synthesis of Hypusine, Are Associated with a Neurodevelopmental Disorder.

American Journal Of Human Genetics
M Ganapathi, LR Padgett, K Yamada, O Devinsky, R Willaert, R Person, PB Au, J Tagoe, M McDonald, D Karlowicz, B Wolf, J Lee, Y Shen, V Okur, L Deng, CA LeDuc, J Wang, A Hanner, RG Mirmira, MH Park, TL Mastracci, WK Chung
Publication Date: 2019-02-07

Variant appearance in text: rs12710260
PubMed Link: 30661771
Variant Present in the following documents:
  • mmc1.pdf
  • mmc2.xlsx
  • mmc3.pdf
View BVdb publication page



Genetic Mechanisms Contribute to the Development of Heart Failure in Patients with Atrioventricular Block and Right Ventricular Apical Pacing.

Scientific Reports
N Liu, M Zheng, S Li, H Bai, Z Liu, CH Hou, S Zhang, J Pu
Publication Date: 2017-09-06

Variant appearance in text: rs12710260
PubMed Link: 28878402
Variant Present in the following documents:
  • 41598_2017_11211_MOESM1_ESM.xlsx
View BVdb publication page



Variability in assigning pathogenicity to incidental findings: insights from LDLR sequence linked to the electronic health record in 1013 individuals.

European Journal Of Human Genetics : Ejhg
MS Safarova, EW Klee, LM Baudhuin, EM Winkler, ML Kluge, SJ Bielinski, JE Olson, IJ Kullo
Publication Date: 2017-04

Variant appearance in text: LDLR: 1060+10G>C; rs12710260
PubMed Link: 28145427
Variant Present in the following documents:
  • Main text
  • ejhg2016193x1.docx
  • ejhg2016193x2.xlsx
  • ejhg2016193x6.pdf
View BVdb publication page



Revisiting the morbid genome of Mendelian disorders.

Genome Biology
M Abouelhoda, T Faquih, M El-Kalioby, FS Alkuraya
Publication Date: 2016-11-24

Variant appearance in text: LDLR: 1060+10G>C
PubMed Link: 27884173
Variant Present in the following documents:
  • 13059_2016_1102_MOESM1_ESM.pdf
View BVdb publication page



The use of targeted exome sequencing in genetic diagnosis of young patients with severe hypercholesterolemia.

Scientific Reports
L Jiang, WF Wu, LY Sun, PP Chen, W Wang, A Benito-Vicente, F Zhang, XD Pan, W Cui, SW Yang, YJ Zhou, C Martin, LY Wang
Publication Date: 2016-11-10

Variant appearance in text: rs12710260
PubMed Link: 27830735
Variant Present in the following documents:
  • Main text
View BVdb publication page



The genetic spectrum of familial hypercholesterolemia in south-eastern Poland.

Metabolism: Clinical And Experimental
M Sharifi, M Walus-Miarka, B Idzior-WaluĊ›, MT Malecki, M Sanak, R Whittall, KW Li, M Futema, SE Humphries
Publication Date: 2016-03

Variant appearance in text: rs12710260
PubMed Link: 26892515
Variant Present in the following documents:
  • mmc1.doc
View BVdb publication page



Evaluation of the Genetic Basis of Familial Aggregation of Pacemaker Implantation by a Large Next Generation Sequencing Panel.

Plos One
PB Celestino-Soper, A Doytchinova, HA Steiner, A Uradu, TC Lynnes, WJ Groh, JM Miller, H Lin, H Gao, Z Wang, Y Liu, PS Chen, M Vatta
Publication Date: 2015

Variant appearance in text: LDLR: 1060+10G>C; rs12710260
PubMed Link: 26636822
Variant Present in the following documents:
  • pone.0143588.s005.docx
View BVdb publication page



Next-generation-sequencing-based identification of familial hypercholesterolemia-related mutations in subjects with increased LDL-C levels in a latvian population.

Bmc Medical Genetics
I Radovica-Spalvina, G Latkovskis, I Silamikelis, D Fridmanis, I Elbere, K Ventins, G Ozola, A Erglis, J Klovins
Publication Date: 2015-09-28

Variant appearance in text: LDLR: 1060+10G>C; rs12710260
PubMed Link: 26415676
Variant Present in the following documents:
  • 12881_2015_230_MOESM1_ESM.doc
View BVdb publication page



Development and rescue of human familial hypercholesterolaemia in a xenograft mouse model.

Nature Communications
B Bissig-Choisat, L Wang, X Legras, PK Saha, L Chen, P Bell, FP Pankowicz, MC Hill, M Barzi, CK Leyton, HE Leung, RL Kruse, RW Himes, JA Goss, JM Wilson, L Chan, WR Lagor, KD Bissig
Publication Date: 2015-06-17

Variant appearance in text: LDLR: 1060+10G>C
PubMed Link: 26081744
Variant Present in the following documents:
  • ncomms8339-s1.pdf
View BVdb publication page



Familial hypercholesterolemia: Molecular characterization of possible cases from the Azores Islands (Portugal).

Meta Gene
T Cymbron, P Mendes, A Ramos, M Raposo, N Kazachkova, AM Medeiros, J Bruges-Armas, M Bourbon, M Lima
Publication Date: 2014-12

Variant appearance in text: rs12710260
PubMed Link: 25606447
Variant Present in the following documents:
  • Main text
View BVdb publication page



Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.

Peerj
JA O'Rawe, H Fang, S Rynearson, R Robison, ES Kiruluta, G Higgins, K Eilbeck, MG Reese, GJ Lyon
Publication Date: 2013

Variant appearance in text: rs12710260
PubMed Link: 24109560
Variant Present in the following documents:
  • peerj-01-177-s015.xlsx
View BVdb publication page



The genetic spectrum of familial hypercholesterolemia in Pakistan.

Clinica Chimica Acta; International Journal Of Clinical Chemistry
W Ahmed, R Whittall, M Riaz, M Ajmal, A Sadeque, H Ayub, R Qamar, SE Humphries
Publication Date: 2013-06-05

Variant appearance in text: rs12710260
PubMed Link: 23535506
Variant Present in the following documents:
  • mmc1.docx
View BVdb publication page



Analysis of sequence variations in low-density lipoprotein receptor gene among Malaysian patients with familial hypercholesterolemia.

Bmc Medical Genetics
A Al-Khateeb, MK Zahri, MS Mohamed, TH Sasongko, S Ibrahim, Z Yusof, BA Zilfalil
Publication Date: 2011-03-19

Variant appearance in text: LDLR: 1060+10G>C; rs12710260
PubMed Link: 21418584
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
NM_001195803.2 c.679+10G>C - intron_variant - 6/15
ENST00000252444.5 c.1314+10G>C - intron_variant - 7/17
ENST00000455727.2 c.556+10G>C - intron_variant - 5/15
ENST00000535915.1 c.937+10G>C - intron_variant - 6/16
ENST00000545707.1 c.679+10G>C - intron_variant - 6/15
ENST00000557933.1 c.1060+10G>C - intron_variant - 7/17
ENST00000558013.1 c.1060+10G>C - intron_variant - 7/17
ENST00000558518.1 c.1060+10G>C - intron_variant - 7/17
ENST00000560173.1 n.59+10G>C - intron_variant,non_coding_transcript_variant - 1/2
ENST00000560467.1 c.541-733G>C - intron_variant - 3/5
NM_000527.5 c.1060+10G>C - intron_variant - 7/17
NM_001195798.2 c.1060+10G>C - intron_variant - 7/17
NM_001195799.2 c.937+10G>C - intron_variant - 6/16
NM_001195800.2 c.556+10G>C - intron_variant - 5/15