MTHFR gene homepage

General information
Gene symbol MTHFR
Gene name methylenetetrahydrofolate reductase (NAD(P)H)
Chromosome 1
Chromosomal band p36.3
Imprinted Unknown
Genomic reference NG_013351.1
Transcript reference NM_005957.4
Exon/intron information NM_005957.4 exon/intron table
Associated with diseases NTDFS, SCZD, THPH1, homocysteinemia, due to deficiency of MTHFR
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Luz Berenice Lopez-Hernandez
Total number of public variants reported 124
Unique public DNA variants reported 87
Individuals with public variants 185
Hidden variants 8
Notes The establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement nÂș 200754 - the GEN2PHEN project.
Date created April 05, 2011
Date last updated August 06, 2020
Version MTHFR:200806

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_005957.4.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
External URL Orphanet
HGNC 7436
Entrez Gene 4524
PubMed articles MTHFR
OMIM - Gene 607093
OMIM - Diseases NTDFS (neural tube defects, folate-sensitive (NTDFS))
SCZD (schizophrenia (SCZD))
THPH1 (thrombophilia,due to thrombin defect (THPH1))
homocysteinemia, due to deficiency of MTHFR
GeneCards MTHFR
GeneTests MTHFR

Active transcripts




NCBI ID     

NCBI Protein ID     

00000162 1 methylenetetrahydrofolate reductase (NAD(P)H) NM_005957.4 NP_005948.3 124

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2011-2020. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.