MTHFR c.417G>T ;(p.T139=)

Variant ID: 1-11861276-C-A

NM_005957.4(MTHFR):c.417G>T;(p.T139=)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Accumulation of rare coding variants in genes implicated in risk of human cleft lip with or without cleft palate.

American Journal Of Medical Genetics. Part A
Marini, Nicholas J NJ; Asrani, Kripa K; Yang, Wei W; Rine, Jasper J; Shaw, Gary M GM
Publication Date: 2019-07

Variant appearance in text: MTHFR: T139T
PubMed Link: 31063268
Variant Present in the following documents:
  • AJMG-179-1260-s007.xlsx, sheet 1
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: N/A
PubMed Link: 25575156
Variant Present in the following documents:
View BVdb publication page



Deep sequencing study of the MTHFR gene to identify variants associated with myelomeningocele.

Birth Defects Research. Part A, Clinical And Molecular Teratology
Aneji, Chiamaka N CN; Northrup, Hope H; Au, Kit Sing KS
Publication Date: 2012-02

Variant appearance in text: N/A
PubMed Link: 22241680
Variant Present in the following documents:
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: rs2066466
PubMed Link: 22140583
Variant Present in the following documents:
  • pone.0028408.s004.xls, sheet 1
View BVdb publication page