MTHFR c.476-79G>C

Variant ID: 1-11860458-C-G

NM_005957.4(MTHFR):c.476-79G>C

This variant was identified in 11 publications

View GRCh38 version.




Publications:


The Roles of MTRR and MTHFR Gene Polymorphisms in Colorectal Cancer Survival.

Nutrients
Wang, Yu Y; Du, Meizhi M; Vallis, Jillian J; Shariati, Matin M; Parfrey, Patrick S PS; Mclaughlin, John R JR; Wang, Peizhong Peter PP; Zhu, Yun Y
Publication Date: 2022-11-01

Variant appearance in text: rs2066471
PubMed Link: 36364857
Variant Present in the following documents:
  • Main text
  • nutrients-14-04594.pdf
View BVdb publication page



Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: rs2066471
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08

Variant appearance in text: rs2066471
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
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Single Nucleotide Polymorphisms in PEMT and MTHFR Genes are Associated with Omega 3 and 6 Fatty Acid Levels in the Red Blood Cells of Children with Obesity.

Nutrients
Serafim, Vlad V; Chirita-Emandi, Adela A; Andreescu, Nicoleta N; Tiugan, Diana-Andreea DA; Tutac, Paul P; Paul, Corina C; Velea, Iulian I; Mihailescu, Alexandra A; Șerban, Costela Lăcrimioara CL; Zimbru, Cristian G CG; Puiu, Maria M; Niculescu, Mihai Dinu MD
Publication Date: 2019-10-30

Variant appearance in text: rs2066471
PubMed Link: 31671528
Variant Present in the following documents:
  • Main text
  • nutrients-11-02600.pdf
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The 677C→T variant of MTHFR is the major genetic modifier of biomarkers of folate status in a young, healthy Irish population.

The American Journal Of Clinical Nutrition
Shane, Barry B; Pangilinan, Faith F; Mills, James L JL; Fan, Ruzong R; Gong, Tingting T; Cropp, Cheryl D CD; Kim, Yoonhee Y; Ueland, Per M PM; Bailey-Wilson, Joan E JE; Wilson, Alexander F AF; Brody, Lawrence C LC; Molloy, Anne M AM
Publication Date: 2018-12-01

Variant appearance in text: rs2066471
PubMed Link: 30339177
Variant Present in the following documents:
  • Main text
View BVdb publication page



Interaction between arsenic exposure from drinking water and genetic polymorphisms on cardiovascular disease in Bangladesh: a prospective case-cohort study.

Environmental Health Perspectives
Wu, Fen F; Jasmine, Farzana F; Kibriya, Muhammad G MG; Liu, Mengling M; Cheng, Xin X; Parvez, Faruque F; Islam, Tariqul T; Ahmed, Alauddin A; Rakibuz-Zaman, Muhammad M; Jiang, Jieying J; Roy, Shantanu S; Paul-Brutus, Rachelle R; Slavkovich, Vesna V; Islam, Tariqul T; Levy, Diane D; VanderWeele, Tyler J TJ; Pierce, Brandon L BL; Graziano, Joseph H JH; Ahsan, Habibul H; Chen, Yu Y
Publication Date: 2015-05

Variant appearance in text: rs2066471
PubMed Link: 25575156
Variant Present in the following documents:
  • ehp.1307883.s001.508.pdf
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Inflammation in the setting of chronic allograft dysfunction post-kidney transplant: phenotype and genotype.

Clinical Transplantation
Israni, Ajay K AK; Leduc, Robert R; Jacobson, Pamala A PA; Wildebush, Winston W; Guan, Weihua W; Schladt, David D; Matas, Arthur J AJ; Oetting, William S WS; ,
Publication Date: 2013

Variant appearance in text: rs2066471
PubMed Link: 23350966
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic signatures in choline and 1-carbon metabolism are associated with the severity of hepatic steatosis.

Faseb Journal : Official Publication Of The Federation Of American Societies For Experimental Biology
Corbin, Karen D KD; Abdelmalek, Manal F MF; Spencer, Melanie D MD; da Costa, Kerry-Ann KA; Galanko, Joseph A JA; Sha, Wei W; Suzuki, Ayako A; Guy, Cynthia D CD; Cardona, Diana M DM; Torquati, Alfonso A; Diehl, Anna Mae AM; Zeisel, Steven H SH
Publication Date: 2013-04

Variant appearance in text: rs2066471
PubMed Link: 23292069
Variant Present in the following documents:
  • Main text
View BVdb publication page



A genetic signature of spina bifida risk from pathway-informed comprehensive gene-variant analysis.

Plos One
Marini, Nicholas J NJ; Hoffmann, Thomas J TJ; Lammer, Edward J EJ; Hardin, Jill J; Lazaruk, Katherine K; Stein, Jason B JB; Gilbert, Dennis A DA; Wright, Crystal C; Lipzen, Anna A; Pennacchio, Len A LA; Carmichael, Suzan L SL; Witte, John S JS; Shaw, Gary M GM; Rine, Jasper J
Publication Date: 2011

Variant appearance in text: rs2066471
PubMed Link: 22140583
Variant Present in the following documents:
  • pone.0028408.s004.xls, sheet 1
View BVdb publication page



Single-nucleotide polymorphisms, acute rejection, and severity of tubulitis in kidney transplantation, accounting for center-to-center variation.

Transplantation
Israni, Ajay A; Leduc, Robert R; Holmes, John J; Jacobson, Pamala A PA; Lamba, Vishal V; Guan, Weihua W; Schladt, David D; Chen, Jinbo J; Matas, Arthur J AJ; Oetting, William S WS; ,
Publication Date: 2010-12-27

Variant appearance in text: rs2066471
PubMed Link: 21085059
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genomic variation in myeloma: design, content, and initial application of the Bank On A Cure SNP Panel to detect associations with progression-free survival.

Bmc Medicine
Van Ness, Brian B; Ramos, Christine C; Haznadar, Majda M; Hoering, Antje A; Haessler, Jeff J; Crowley, John J; Jacobus, Susanna S; Oken, Martin M; Rajkumar, Vincent V; Greipp, Philip P; Barlogie, Bart B; Durie, Brian B; Katz, Michael M; Atluri, Gowtham G; Fang, Gang G; Gupta, Rohit R; Steinbach, Michael M; Kumar, Vipin V; Mushlin, Richard R; Johnson, David D; Morgan, Gareth G
Publication Date: 2008-09-08

Variant appearance in text: rs2066471
PubMed Link: 18778477
Variant Present in the following documents:
  • Main text
  • 1741-7015-6-26.pdf
View BVdb publication page