Variant ID: 1-25889632-T-C

NM_015627.2(LDLRAP1):c.604T>C;(p.Ser202Pro)

This variant was identified in 15 publications




Publications:


Phenotypic severity in a family with MEND syndrome is directly associated with the accumulation of potentially functional variants of cholesterol homeostasis genes.

Molecular Genetics & Genomic Medicine
MC Barboza-Cerda, O Barboza-Quintana, G Martínez-Aldape, R Garza-Guajardo, MA Déctor
Publication Date: 2019-09

Variant appearance in text: rs6687605
PubMed Link: 31397093
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic markers of lipid metabolism genes associated with low susceptibility to HCV infection.

Scientific Reports
LM Real, J Macías, A Rivero-Juárez, F Téllez, D Merino, S Moreno-Grau, A Orellana, J Gómez-Salgado, ME Sáez, M Frías, A Corma-Gómez, N Merchante, A Ruiz, A Caruz, JA Pineda,
Publication Date: 2019-06-21

Variant appearance in text: rs6687605
PubMed Link: 31227787
Variant Present in the following documents:
  • Main text
View BVdb publication page



Challenges imposed by minor reference alleles on the identification and reporting of clinical variants from exome data.

Bmc Genomics
M Koko, MOE Abdallah, M Amin, M Ibrahim
Publication Date: 2018-01-15

Variant appearance in text: rs6687605
PubMed Link: 29334895
Variant Present in the following documents:
  • 12864_2018_4433_MOESM3_ESM.xls
View BVdb publication page



Family-specific aggregation of lipid GWAS variants confers the susceptibility to familial hypercholesterolemia in a large Austrian family.

Atherosclerosis
E Nikkola, A Ko, M Alvarez, RM Cantor, K Garske, E Kim, S Gee, A Rodriguez, R Muxel, N Matikainen, S Söderlund, MM Motazacker, J Borén, C Lamina, F Kronenberg, WJ Schneider, A Palotie, M Laakso, MR Taskinen, P Pajukanta
Publication Date: 2017-09

Variant appearance in text: LDLRAP1: S202P; rs6687605
PubMed Link: 28772107
Variant Present in the following documents:
  • NIHMS896854-supplement.pdf
View BVdb publication page



Mean Platelet Volume and Arterial Stiffness - Clinical Relationship and Common Genetic Variability.

Scientific Reports
M Panova-Noeva, N Arnold, MI Hermanns, JH Prochaska, A Schulz, HM Spronk, H Binder, N Pfeiffer, M Beutel, S Blankenberg, T Zeller, J Lotz, T Münzel, KJ Lackner, H Ten Cate, PS Wild
Publication Date: 2017-01-06

Variant appearance in text: rs6687605
PubMed Link: 28059166
Variant Present in the following documents:
  • srep40229-s1.docx
View BVdb publication page



Platelet-Related Variants Identified by Exomechip Meta-analysis in 157,293 Individuals.

American Journal Of Human Genetics
JD Eicher, N Chami, T Kacprowski, A Nomura, MH Chen, LR Yanek, SM Tajuddin, UM Schick, AJ Slater, N Pankratz, L Polfus, C Schurmann, A Giri, JA Brody, LA Lange, A Manichaikul, WD Hill, R Pazoki, P Elliot, E Evangelou, I Tzoulaki, H Gao, AC Vergnaud, RA Mathias, DM Becker, LC Becker, A Burt, DR Crosslin, LP Lyytikäinen, K Nikus, J Hernesniemi, M Kähönen, E Raitoharju, N Mononen, OT Raitakari, T Lehtimäki, M Cushman, NA Zakai, DA Nickerson, LM Raffield, R Quarells, CJ Willer, GM Peloso, GR Abecasis, DJ Liu, , P Deloukas, NJ Samani, H Schunkert, J Erdmann, , , M Fornage, M Richard, JC Tardif, JD Rioux, MP Dube, S de Denus, Y Lu, EP Bottinger, RJ Loos, AV Smith, TB Harris, LJ Launer, V Gudnason, DR Velez Edwards, ES Torstenson, Y Liu, RP Tracy, JI Rotter, SS Rich, HM Highland, E Boerwinkle, J Li, E Lange, JG Wilson, E Mihailov, R Mägi, J Hirschhorn, A Metspalu, T Esko, C Vacchi-Suzzi, MA Nalls, AB Zonderman, MK Evans, G Engström, M Orho-Melander, O Melander, ML O'Donoghue, DM Waterworth, L Wallentin, HD White, JS Floyd, TM Bartz, KM Rice, BM Psaty, JM Starr, DC Liewald, C Hayward, IJ Deary, A Greinacher, U Völker, T Thiele, H Völzke, FJ van Rooij, AG Uitterlinden, OH Franco, A Dehghan, TL Edwards, SK Ganesh, S Kathiresan, N Faraday, PL Auer, AP Reiner, G Lettre, AD Johnson
Publication Date: 2016-07-07

Variant appearance in text: rs6687605
PubMed Link: 27346686
Variant Present in the following documents:
  • Main text
  • mmc3.pdf
  • mmc2.xlsx
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: LDLRAP1: Ser202Pro; rs6687605
PubMed Link: 26415676
Variant Present in the following documents:
  • 12881_2015_230_MOESM1_ESM.doc
View BVdb publication page



The association of APOC4 polymorphisms with premature coronary artery disease in a Chinese Han population.

Lipids In Health And Disease
S Xu, J Cheng, NH Li, YN Chen, MY Cai, SS Tang, H Huang, B Zhang, JM Cen, XL Yang, C Chen, X Liu, XD Xiong
Publication Date: 2015-06-28

Variant appearance in text: rs6687605
PubMed Link: 26129832
Variant Present in the following documents:
  • Main text
View BVdb publication page



The LRP6 rs2302685 polymorphism is associated with increased risk of myocardial infarction.

Lipids In Health And Disease
S Xu, J Cheng, YN Chen, K Li, ZW Ma, JM Cen, X Liu, XL Yang, C Chen, XD Xiong
Publication Date: 2014-06-07

Variant appearance in text: rs6687605
PubMed Link: 24906453
Variant Present in the following documents:
  • Main text
  • 1476-511X-13-94-S1.doc
View BVdb publication page



Detection and replication of epistasis influencing transcription in humans.

Nature
G Hemani, K Shakhbazov, HJ Westra, T Esko, AK Henders, AF McRae, J Yang, G Gibson, NG Martin, A Metspalu, L Franke, GW Montgomery, PM Visscher, JE Powell
Publication Date: 2014-04-10

Variant appearance in text: rs6687605
PubMed Link: 24572353
Variant Present in the following documents:
  • NIHMS554241-supplement-1.pdf
View BVdb publication page



A new locus on chromosome 22q13.31 linked to recessive genetic epilepsy with febrile seizures plus (GEFS+) in a Tunisian consanguineous family.

Bmc Genetics
N Belhedi, F Bena, A Mrabet, M Guipponi, CB Souissi, HK Mrabet, AB Elgaaied, A Malafosse, A Salzmann
Publication Date: 2013-09-25

Variant appearance in text: LDLRAP1: 604T>C; S202P; rs6687605
PubMed Link: 24067191
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide association analysis implicates elastic microfibrils in the development of nonsyndromic striae distensae.

The Journal Of Investigative Dermatology
JY Tung, AK Kiefer, M Mullins, U Francke, N Eriksson
Publication Date: 2013-11

Variant appearance in text: rs6687605
PubMed Link: 23633020
Variant Present in the following documents:
  • jid2013196x1.pdf
View BVdb publication page



Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutation.

European Journal Of Human Genetics : Ejhg
C Dias, A McDonald, M Sincan, R Rupps, T Markello, R Salvarinova, RF Santos, K Menghrajani, C Ahaghotu, DP Sutherland, ES Fortuno, TR Kollmann, M Demos, JM Friedman, DP Speert, WA Gahl, CF Boerkoel
Publication Date: 2013-11

Variant appearance in text: rs6687605
PubMed Link: 23443029
Variant Present in the following documents:
  • ejhg201320x4.doc
View BVdb publication page



A novel Thr56Met mutation of the autosomal recessive hypercholesterolemia gene associated with hypercholesterolemia.

Journal Of Atherosclerosis And Thrombosis
K Harada, Y Miyamoto, H Morisaki, N Ohta, I Yamanaka, Y Kokubo, H Makino, M Harada-Shiba, A Okayama, H Tomoike, T Okamura, O Tomonori, Y Saito, Y Yoshimasa, T Morisaki
Publication Date: 2010-02-26

Variant appearance in text: rs6687605
PubMed Link: 20124734
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variation in an individual human exome.

Plos Genetics
PC Ng, S Levy, J Huang, TB Stockwell, BP Walenz, K Li, N Axelrod, DA Busam, RL Strausberg, JC Venter
Publication Date: 2008-08-15

Variant appearance in text: rs6687605
PubMed Link: 18704161
Variant Present in the following documents:
  • pgen.1000160.s010.xls
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000374338.4 c.604T>C p.Ser202Pro missense_variant 6/9 -
ENST00000484476.1 n.326T>C - non_coding_transcript_exon_variant 1/4 -
ENST00000488127.1 n.1074T>C - non_coding_transcript_exon_variant 5/7 -
NM_015627.3 c.604T>C p.Ser202Pro missense_variant 6/9 -