MTRR c.1146+293A>G

Variant ID: 5-7887109-A-G

NM_002454.2(MTRR):c.1146+293A>G

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal
Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL
Publication Date: 2019-04

Variant appearance in text: rs3815743
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
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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: rs3815743
PubMed Link: 22140583
Variant Present in the following documents:
  • pone.0028408.s004.xls, sheet 1
View BVdb publication page



Four genetic loci influencing electrocardiographic indices of left ventricular hypertrophy.

Circulation. Cardiovascular Genetics
Shah, Sonia S; Nelson, Christopher P CP; Gaunt, Tom R TR; van der Harst, Pim P; Barnes, Timothy T; Braund, Peter S PS; Lawlor, Debbie A DA; Casas, Juan-Pablo JP; Padmanabhan, Sandosh S; Drenos, Fotios F; Kivimaki, Mika M; Talmud, Philippa J PJ; Humphries, Steve E SE; Whittaker, John J; Morris, Richard W RW; Whincup, Peter H PH; Dominiczak, Anna A; Munroe, Patricia B PB; Johnson, Toby T; Goodall, Alison H AH; Cambien, Francois F; Diemert, Patrick P; Hengstenberg, Christian C; Ouwehand, Willem H WH; Felix, Janine F JF; Glazer, Nicole L NL; Tomaszewski, Maciej M; Burton, Paul R PR; Tobin, Martin D MD; van Veldhuisen, Dirk J DJ; de Boer, Rudolf A RA; Navis, Gerjan G; van Gilst, Wiek H WH; Mayosi, Bongani M BM; Thompson, John R JR; Kumari, Meena M; MacFarlane, Peter W PW; Day, Ian N M IN; Hingorani, Aroon D AD; Samani, Nilesh J NJ
Publication Date: 2011-12

Variant appearance in text: rs3815743
PubMed Link: 21965548
Variant Present in the following documents:
  • Main text
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