MTHFR c.1660_1662delinsTTT ;(p.L554F)

Variant ID: 1-11851354-CAG-AAA

NM_005957.4(MTHFR):c.1660_1662delinsTTT;(p.L554F)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Zinc Finger 259 Gene Polymorphism rs964184 is Associated with Serum Triglyceride Levels and Metabolic Syndrome.

International Journal Of Molecular And Cellular Medicine
Mirhafez, Seyed Reza SR; Avan, Amir A; Pasdar, Alireza A; Khatamianfar, Sara S; Hosseinzadeh, Leila L; Ganjali, Shiva S; Movahedi, Ali A; Pirhoushiaran, Maryam M; Mellado, Valentina Gómez VG; Rosace, Domenico D; van Krieken, Anne A; Nohtani, Mahdi M; Ferns, Gordon A GA; Ghayour-Mobarhan, Majid M
Publication Date: 2016

Variant appearance in text: MTHFR: Leu554Phe
PubMed Link: 27386434
Variant Present in the following documents:
  • Main text
  • ijmcm-5-008.pdf
View BVdb publication page



Genetic polymorphisms and the risk of myocardial infarction in patients under 45 years of age.

Biochemical Genetics
Sakowicz, Agata A; Fendler, Wojciech W; Lelonek, Malgorzata M; Sakowicz, Bartosz B; Pietrucha, Tadeusz T
Publication Date: 2013-04

Variant appearance in text: MTHFR: Leu554Phe
PubMed Link: 23274712
Variant Present in the following documents:
  • 10528_2012_Article_9558.pdf
View BVdb publication page



Genetic variability and the risk of myocardial infarction in Poles under 45 years of age.

Archives Of Medical Science : Ams
Sakowicz, Agata A; Fendler, Wojciech W; Lelonek, Malgorzata M; Pietrucha, Tadeusz T
Publication Date: 2010-04-30

Variant appearance in text: MTHFR: Leu554Phe
PubMed Link: 22371740
Variant Present in the following documents:
  • AMS-6-14639.pdf
View BVdb publication page



Association of congenital cardiovascular malformations with 33 single nucleotide polymorphisms of selected cardiovascular disease-related genes.

Birth Defects Research. Part A, Clinical And Molecular Teratology
Kuehl, Karen K; Loffredo, Christopher C; Lammer, Edward J EJ; Iovannisci, David M DM; Shaw, Gary M GM
Publication Date: 2010-02

Variant appearance in text: MTHFR: Leu554Phe
PubMed Link: 19764075
Variant Present in the following documents:
  • Main text
View BVdb publication page



Investigation of 89 candidate gene variants for effects on all-cause mortality following acute coronary syndrome.

Bmc Medical Genetics
Morgan, Thomas M TM; Xiao, Lan L; Lyons, Patrick P; Kassebaum, Bethany B; Krumholz, Harlan M HM; Spertus, John A JA
Publication Date: 2008-07-12

Variant appearance in text: MTHFR: Leu554Phe
PubMed Link: 18620593
Variant Present in the following documents:
  • Main text
View BVdb publication page



New application of intelligent agents in sporadic amyotrophic lateral sclerosis identifies unexpected specific genetic background.

Bmc Bioinformatics
Penco, Silvana S; Buscema, Massimo M; Patrosso, Maria Cristina MC; Marocchi, Alessandro A; Grossi, Enzo E
Publication Date: 2008-05-30

Variant appearance in text: MTHFR: leu554phe
PubMed Link: 18513389
Variant Present in the following documents:
  • Main text
View BVdb publication page



Effects of interacting networks of cardiovascular risk genes on the risk of type 2 diabetes mellitus (the CODAM study).

Bmc Medical Genetics
van Greevenbroek, Marleen M J MM; Zhang, Jian J; Kallen, Carla J H van der CJ; Schiffers, Paul M H PM; Feskens, Edith J M EJ; de Bruin, Tjerk W A TW
Publication Date: 2008-04-24

Variant appearance in text: MTHFR: Leu554Phe
PubMed Link: 18433508
Variant Present in the following documents:
  • Main text
  • 1471-2350-9-36.pdf
View BVdb publication page



Search for haplotype interactions that influence susceptibility to type 1 diabetes, through use of unphased genotype data.

American Journal Of Human Genetics
Zhang, Jian J; Liang, Faming F; Dassen, Willem R M WR; Veldman, Bart A J BA; Doevendans, Pieter A PA; De Gunst, Mathisca M
Publication Date: 2003-12

Variant appearance in text: MTHFR: Leu554Phe
PubMed Link: 14639528
Variant Present in the following documents:
  • Main text
View BVdb publication page