MTHFD1 (methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1) - Rat Genome Database

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Gene: MTHFD1 (methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1) Homo sapiens
Analyze
Symbol: MTHFD1
Name: methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1
RGD ID: 732147
HGNC Page HGNC
Description: Enables formate-tetrahydrofolate ligase activity; methenyltetrahydrofolate cyclohydrolase activity; and methylenetetrahydrofolate dehydrogenase (NADP+) activity. Involved in carboxylic acid biosynthetic process and tetrahydrofolate interconversion. Located in cytosol. Implicated in several diseases, including Down syndrome; cleft lip; developmental cardiac valvular defect; neural tube defect (multiple); and tetralogy of Fallot. Biomarker of Down syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 5,10-methylenetetrahydrofolate dehydrogenase, 5,10-methylenetetrahydrofolate cyclohydrolase, 10-formyltetrahydrofolate synthetase; C-1-tetrahydrofolate synthase, cytoplasmic; c1-tetrahydrofolate synthase; C1-THF synthase; CIMAH; cytoplasmic C-1-tetrahydrofolate synthase; methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase; MTHFC; MTHFD
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: MTHFD1P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381464,388,353 - 64,460,025 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1464,388,031 - 64,463,457 (+)EnsemblGRCh38hg38GRCh38
GRCh371464,855,071 - 64,926,743 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361463,924,846 - 63,996,474 (+)NCBINCBI36hg18NCBI36
Build 341463,924,845 - 63,996,474NCBI
Celera1444,912,512 - 44,984,454 (+)NCBI
Cytogenetic Map14q23.3NCBI
HuRef1445,027,910 - 45,099,523 (+)NCBIHuRef
CHM1_11464,794,532 - 64,866,438 (+)NCBICHM1_1
T2T-CHM13v2.01458,596,072 - 58,667,774 (+)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
1-chloro-2,4-dinitrobenzene  (EXP)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4,6-tribromophenol  (EXP)
2-butoxyethanol  (ISO)
3,3',5,5'-tetrabromobisphenol A  (EXP)
4-hydroxyphenyl retinamide  (ISO)
5-aza-2'-deoxycytidine  (EXP,ISO)
acrylamide  (EXP,ISO)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP)
ammonium chloride  (ISO)
amphetamine  (ISO)
aristolochic acid  (EXP)
arsenous acid  (EXP)
atrazine  (EXP)
benzo[a]pyrene  (EXP)
benzo[b]fluoranthene  (ISO)
bisphenol A  (EXP,ISO)
Brodifacoum  (ISO)
buspirone  (ISO)
carbon nanotube  (ISO)
choline  (EXP,ISO)
chromium(6+)  (ISO)
cisplatin  (EXP)
cobalt dichloride  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
coumestrol  (EXP)
Cuprizon  (ISO)
cyclosporin A  (EXP)
decabromodiphenyl ether  (EXP)
deguelin  (EXP)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
dioxygen  (EXP,ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
Enterolactone  (EXP)
entinostat  (EXP)
enzyme inhibitor  (EXP)
ethanol  (ISO)
fenamidone  (ISO)
folic acid  (ISO)
genistein  (EXP)
glafenine  (ISO)
hydroquinone  (EXP)
ivermectin  (EXP)
L-methionine  (ISO)
lead(0)  (EXP)
lead(2+)  (EXP)
menadione  (EXP)
methotrexate  (EXP)
methyl methanesulfonate  (EXP)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (EXP)
oxaliplatin  (ISO)
paracetamol  (EXP,ISO)
phenobarbital  (ISO)
pirinixic acid  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
resveratrol  (EXP)
rotenone  (EXP,ISO)
S-adenosyl-L-methioninate  (ISO)
S-adenosyl-L-methionine  (ISO)
SB 431542  (EXP)
sodium arsenite  (EXP,ISO)
sunitinib  (EXP)
temozolomide  (EXP)
tetrachloromethane  (ISO)
thapsigargin  (EXP,ISO)
topotecan  (ISO)
trichostatin A  (EXP)
trimellitic anhydride  (ISO)
tunicamycin  (EXP)
urethane  (EXP)
valproic acid  (EXP)
vancomycin  (ISO)
vorinostat  (EXP)
zinc sulfate  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IEA)
cytosol  (IBA,IDA,TAS)
extracellular exosome  (HDA)
membrane  (HDA)
mitochondrion  (TAS)

References

References - curated
1. Beaudin AE, etal., Am J Clin Nutr. 2012 Apr;95(4):882-91. doi: 10.3945/ajcn.111.030783. Epub 2012 Feb 29.
2. Christensen KE, etal., Hum Mutat. 2009 Feb;30(2):212-20. doi: 10.1002/humu.20830.
3. De Marco P, etal., J Hum Genet. 2006;51(2):98-103. Epub 2005 Nov 29.
4. Fountoulakis M, etal., J Neural Transm Suppl. 2003;(67):85-93.
5. Furness DL, etal., Am J Obstet Gynecol. 2008 Sep;199(3):276.e1-8. doi: 10.1016/j.ajog.2008.06.020.
6. GOA_HUMAN data from the GO Consortium
7. Hol FA, etal., Clin Genet. 1998 Feb;53(2):119-25.
8. Izci Ay O, etal., Genet Test Mol Biomarkers. 2015 Apr;19(4):191-7. doi: 10.1089/gtmb.2014.0262. Epub 2015 Feb 11.
9. KEGG
10. Lorenc A, etal., Ginekol Pol. 2014 Jul;85(7):494-9.
11. Meng J, etal., J Neurol Sci. 2015 Jan 15;348(1-2):188-94. doi: 10.1016/j.jns.2014.12.001. Epub 2014 Dec 6.
12. Mills JL, etal., Birth Defects Res A Clin Mol Teratol. 2008 Sep;82(9):636-43. doi: 10.1002/bdra.20491.
13. Murthy J, etal., Med Oral Patol Oral Cir Bucal. 2014 Nov 1;19(6):e616-21.
14. OMIM Disease Annotation Pipeline
15. Palmieri A, etal., Ann Hum Genet. 2008 May;72(Pt 3):297-9. doi: 10.1111/j.1469-1809.2007.00428.x. Epub 2008 Jan 6.
16. Pipeline to import KEGG annotations from KEGG into RGD
17. Pipeline to import SMPDB annotations from SMPDB into RGD
18. RGD automated import pipeline for gene-chemical interactions
19. Stover PJ and Field MS, Adv Nutr. 2011 Jul;2(4):325-31. doi: 10.3945/┬┐an.111.000596. Epub 2011 Jun 28.
20. Stover PJ J Nutrigenet Nutrigenomics. 2011;4(5):293-305. doi: 10.1159/000334586. Epub 2012 Feb 22.
21. Thigpen AE, etal., J Biol Chem 1990 May 15;265(14):7907-13.
22. Watkins D and Rosenblatt DS, J Inherit Metab Dis. 2012 Jul;35(4):665-70. doi: 10.1007/s10545-011-9418-1. Epub 2011 Nov 23.
23. Zampieri BL, etal., Genet Test Mol Biomarkers. 2012 Jun;16(6):628-31. doi: 10.1089/gtmb.2011.0257. Epub 2012 Feb 17.
Additional References at PubMed
PMID:1881876   PMID:2183217   PMID:2587219   PMID:2786332   PMID:3053686   PMID:3074630   PMID:3528153   PMID:3877056   PMID:9519408   PMID:10828945   PMID:12015164   PMID:12384833  
PMID:12477932   PMID:12665801   PMID:14632302   PMID:14647408   PMID:14702039   PMID:14744259   PMID:15122597   PMID:15489334   PMID:15503105   PMID:15633187   PMID:15719048   PMID:15797993  
PMID:15861780   PMID:15937947   PMID:15953655   PMID:16123074   PMID:16196087   PMID:16236726   PMID:16263121   PMID:16328059   PMID:16552426   PMID:16712703   PMID:17035141   PMID:17114913  
PMID:17342744   PMID:17353931   PMID:17417062   PMID:17436311   PMID:17438114   PMID:17449906   PMID:17530705   PMID:17533396   PMID:17548676   PMID:17691219   PMID:17894836   PMID:18029348  
PMID:18221821   PMID:18277167   PMID:18320585   PMID:18427977   PMID:18635682   PMID:18801628   PMID:18818748   PMID:18988749   PMID:18992148   PMID:19019335   PMID:19020309   PMID:19048631  
PMID:19056867   PMID:19064578   PMID:19112534   PMID:19130090   PMID:19161160   PMID:19167960   PMID:19328558   PMID:19336370   PMID:19493349   PMID:19527514   PMID:19533788   PMID:19619240  
PMID:19649727   PMID:19651439   PMID:19683694   PMID:19706844   PMID:19706888   PMID:19734545   PMID:19737740   PMID:19738201   PMID:19774638   PMID:19858780   PMID:19913121   PMID:19936946  
PMID:19946345   PMID:19946888   PMID:20056620   PMID:20140262   PMID:20209990   PMID:20217437   PMID:20334533   PMID:20348541   PMID:20374669   PMID:20386493   PMID:20447924   PMID:20453000  
PMID:20458337   PMID:20458436   PMID:20473970   PMID:20544798   PMID:20565774   PMID:20570913   PMID:20594233   PMID:20615890   PMID:20628086   PMID:20634891   PMID:20737570   PMID:20824655  
PMID:20852008   PMID:20877624   PMID:20890936   PMID:21055808   PMID:21081666   PMID:21090237   PMID:21139048   PMID:21145461   PMID:21254748   PMID:21271780   PMID:21319273   PMID:21349258  
PMID:21360829   PMID:21537707   PMID:21853274   PMID:21873635   PMID:21890473   PMID:21906983   PMID:21963094   PMID:22053931   PMID:22074251   PMID:22079093   PMID:22268729   PMID:22505724  
PMID:22863883   PMID:22939629   PMID:23000965   PMID:23376485   PMID:23463506   PMID:23533145   PMID:23685927   PMID:23798571   PMID:23894459   PMID:24169621   PMID:24197977   PMID:24287951  
PMID:24332808   PMID:24368157   PMID:24457600   PMID:24668664   PMID:24711643   PMID:24816145   PMID:24977710   PMID:24981860   PMID:25039261   PMID:25079255   PMID:25099943   PMID:25147182  
PMID:25192599   PMID:25213861   PMID:25304051   PMID:25315684   PMID:25437307   PMID:25502174   PMID:25544792   PMID:25548164   PMID:25633902   PMID:25730024   PMID:25756610   PMID:25921289  
PMID:25959826   PMID:25963833   PMID:26186194   PMID:26269332   PMID:26299783   PMID:26343515   PMID:26344197   PMID:26394717   PMID:26460568   PMID:26471122   PMID:26496610   PMID:26618866  
PMID:26641092   PMID:26777405   PMID:26792863   PMID:26803590   PMID:26816005   PMID:26831064   PMID:26853819   PMID:26972000   PMID:27025967   PMID:27462432   PMID:27503909   PMID:27597531  
PMID:27609421   PMID:27684187   PMID:27872106   PMID:28299500   PMID:28302793   PMID:28398708   PMID:28514442   PMID:28515276   PMID:28561026   PMID:28865601   PMID:28968444   PMID:29117863  
PMID:29128334   PMID:29229926   PMID:29331416   PMID:29378950   PMID:29392422   PMID:29467282   PMID:29507755   PMID:29509190   PMID:29564676   PMID:29676528   PMID:29845934   PMID:29872149  
PMID:30021884   PMID:30183434   PMID:30258100   PMID:30343310   PMID:30388610   PMID:30404004   PMID:30425250   PMID:30442662   PMID:30459299   PMID:30463901   PMID:30575818   PMID:30711629  
PMID:30814086   PMID:30882176   PMID:30890647   PMID:30940648   PMID:30948266   PMID:30997850   PMID:31006538   PMID:31048545   PMID:31059266   PMID:31067453   PMID:31091453   PMID:31099277  
PMID:31133746   PMID:31239290   PMID:31300519   PMID:31527615   PMID:31536960   PMID:31616248   PMID:31980649   PMID:32129710   PMID:32238907   PMID:32249768   PMID:32414565   PMID:32443475  
PMID:32786267   PMID:32807901   PMID:32838362   PMID:32929329   PMID:32941674   PMID:33024031   PMID:33226137   PMID:33301849   PMID:33382484   PMID:33545068   PMID:33567341   PMID:33658012  
PMID:33845483   PMID:33916271   PMID:33961781   PMID:34017080   PMID:34091597   PMID:34373451   PMID:34428256   PMID:34544865   PMID:34709727   PMID:34841685   PMID:35032548   PMID:35100977  
PMID:35271311  


Genomics

Comparative Map Data
MTHFD1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381464,388,353 - 64,460,025 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1464,388,031 - 64,463,457 (+)EnsemblGRCh38hg38GRCh38
GRCh371464,855,071 - 64,926,743 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361463,924,846 - 63,996,474 (+)NCBINCBI36hg18NCBI36
Build 341463,924,845 - 63,996,474NCBI
Celera1444,912,512 - 44,984,454 (+)NCBI
Cytogenetic Map14q23.3NCBI
HuRef1445,027,910 - 45,099,523 (+)NCBIHuRef
CHM1_11464,794,532 - 64,866,438 (+)NCBICHM1_1
T2T-CHM13v2.01458,596,072 - 58,667,774 (+)NCBI
Mthfd1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391276,301,180 - 76,366,594 (+)NCBIGRCm39mm39
GRCm39 Ensembl1276,302,072 - 76,366,577 (+)Ensembl
GRCm381276,254,406 - 76,319,820 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1276,255,298 - 76,319,803 (+)EnsemblGRCm38mm10GRCm38
MGSCv371277,356,219 - 77,420,807 (+)NCBIGRCm37mm9NCBIm37
MGSCv361277,174,248 - 77,238,643 (+)NCBImm8
Celera1277,346,103 - 77,410,765 (+)NCBICelera
Cytogenetic Map12C3NCBI
Mthfd1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2694,977,862 - 95,045,375 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl694,977,862 - 95,045,372 (+)Ensembl
Rnor_6.0699,282,850 - 99,350,367 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl699,282,850 - 99,350,340 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.06108,694,405 - 108,761,922 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4698,849,446 - 98,916,936 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1698,852,901 - 98,920,392 (+)NCBI
Celera693,402,792 - 93,470,182 (+)NCBICelera
Cytogenetic Map6q24NCBI
Mthfd1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554665,420,702 - 5,485,773 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554665,422,141 - 5,485,773 (-)NCBIChiLan1.0ChiLan1.0
MTHFD1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11463,223,484 - 63,293,881 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1463,223,484 - 63,293,881 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01444,969,573 - 45,041,296 (+)NCBIMhudiblu_PPA_v0panPan3
MTHFD1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1838,831,672 - 38,889,607 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl838,831,860 - 38,889,453 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha838,523,089 - 38,581,005 (+)NCBI
ROS_Cfam_1.0839,053,525 - 39,110,717 (+)NCBI
ROS_Cfam_1.0 Ensembl839,053,695 - 39,110,711 (+)Ensembl
UMICH_Zoey_3.1838,674,867 - 38,732,782 (+)NCBI
UNSW_CanFamBas_1.0838,746,016 - 38,804,174 (+)NCBI
UU_Cfam_GSD_1.0839,107,099 - 39,164,254 (+)NCBI
Mthfd1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440864066,022,476 - 66,090,639 (-)NCBI
SpeTri2.0NW_0049364958,100,977 - 8,170,244 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MTHFD1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl788,471,414 - 88,537,600 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1788,471,317 - 88,533,690 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2794,832,549 - 94,894,977 (+)NCBISscrofa10.2Sscrofa10.2susScr3
MTHFD1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12441,590,655 - 41,663,551 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl2441,590,590 - 41,666,952 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366605329,766,843 - 29,840,674 (+)NCBIVero_WHO_p1.0
Mthfd1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473436,560,486 - 36,620,026 (-)EnsemblHetGla_female_1.0hetGla2
HetGla 1.0NW_00462473436,560,486 - 36,620,043 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
SHGC-8058  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371464,926,546 - 64,926,635UniSTSGRCh37
Build 361463,996,299 - 63,996,388RGDNCBI36
Celera1444,984,275 - 44,984,364RGD
Cytogenetic Map14q24UniSTS
HuRef1445,099,344 - 45,099,433UniSTS
GeneMap99-G3 RH Map142219.0UniSTS
G17812  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371464,870,598 - 64,870,770UniSTSGRCh37
Build 361463,940,351 - 63,940,523RGDNCBI36
Celera1444,928,350 - 44,928,522RGD
Cytogenetic Map14q24UniSTS
HuRef1445,043,895 - 45,044,067UniSTS
RH66227  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371464,914,378 - 64,914,511UniSTSGRCh37
Build 361463,984,131 - 63,984,264RGDNCBI36
Celera1444,972,110 - 44,972,243RGD
Cytogenetic Map14q24UniSTS
HuRef1445,087,179 - 45,087,312UniSTS
GeneMap99-GB4 RH Map14153.14UniSTS
NCBI RH Map14647.8UniSTS
G35374  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371464,920,541 - 64,920,741UniSTSGRCh37
Build 361463,990,294 - 63,990,494RGDNCBI36
Celera1444,978,274 - 44,978,474RGD
Cytogenetic Map14q24UniSTS
HuRef1445,093,343 - 45,093,543UniSTS
G35987  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371464,907,998 - 64,908,123UniSTSGRCh37
Build 361463,977,751 - 63,977,876RGDNCBI36
Celera1444,965,730 - 44,965,855RGD
Cytogenetic Map14q24UniSTS
HuRef1445,080,801 - 45,080,926UniSTS
G35893  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371464,880,143 - 64,880,304UniSTSGRCh37
Build 361463,949,896 - 63,950,057RGDNCBI36
Celera1444,937,882 - 44,938,043RGD
Cytogenetic Map14q24UniSTS
HuRef1445,053,430 - 45,053,591UniSTS
D14S1185  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371464,926,511 - 64,926,638UniSTSGRCh37
Build 361463,996,264 - 63,996,391RGDNCBI36
Celera1444,984,240 - 44,984,367RGD
Cytogenetic Map14q24UniSTS
HuRef1445,099,309 - 45,099,436UniSTS
TNG Radiation Hybrid Map1420356.0UniSTS
Stanford-G3 RH Map142174.0UniSTS
NCBI RH Map14649.6UniSTS
GeneMap99-G3 RH Map142222.0UniSTS
RH65696  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map14q24UniSTS
hummdmcs  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map14q24UniSTS
GeneMap99-GB4 RH MapX194.39UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2132
Count of miRNA genes:970
Interacting mature miRNAs:1166
Transcripts:ENST00000216605, ENST00000545908, ENST00000553391, ENST00000553405, ENST00000554057, ENST00000554353, ENST00000554677, ENST00000554739, ENST00000554768, ENST00000555252, ENST00000555709, ENST00000555858, ENST00000556284, ENST00000556771, ENST00000557370, ENST00000557539
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1332 1552 1005 495 919 454 3645 1573 1460 337 763 1026 58 1 1071 2451 4 2
Low 1107 1400 721 129 1007 11 711 610 2274 82 697 587 117 133 337 2
Below cutoff 39 25 14

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012450 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001364837 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005956 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK095514 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302747 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312361 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL122035 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001014 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009806 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC050420 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ959308 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA446032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC368835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ891332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J04031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000545908   ⟹   ENSP00000438588
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1464,388,031 - 64,463,457 (+)Ensembl
RefSeq Acc Id: ENST00000553391
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1464,424,215 - 64,427,473 (+)Ensembl
RefSeq Acc Id: ENST00000553405
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1464,441,248 - 64,453,807 (+)Ensembl
RefSeq Acc Id: ENST00000554057
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1464,419,203 - 64,426,192 (+)Ensembl
RefSeq Acc Id: ENST00000554353
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1464,457,997 - 64,460,003 (+)Ensembl
RefSeq Acc Id: ENST00000554677
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1464,431,828 - 64,441,812 (+)Ensembl
RefSeq Acc Id: ENST00000554739   ⟹   ENSP00000477359
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1464,388,308 - 64,415,429 (+)Ensembl
RefSeq Acc Id: ENST00000554768   ⟹   ENSP00000477501
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1464,388,308 - 64,459,996 (+)Ensembl
RefSeq Acc Id: ENST00000555252
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1464,388,311 - 64,440,447 (+)Ensembl
RefSeq Acc Id: ENST00000555709   ⟹   ENSP00000450560
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1464,388,311 - 64,439,581 (+)Ensembl
RefSeq Acc Id: ENST00000555858
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1464,435,567 - 64,439,376 (+)Ensembl
RefSeq Acc Id: ENST00000556284
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1464,449,501 - 64,459,982 (+)Ensembl
RefSeq Acc Id: ENST00000556771
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1464,440,221 - 64,445,138 (+)Ensembl
RefSeq Acc Id: ENST00000557370   ⟹   ENSP00000477199
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1464,388,362 - 64,455,173 (+)Ensembl
RefSeq Acc Id: ENST00000557539   ⟹   ENSP00000476468
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1464,388,727 - 64,415,710 (+)Ensembl
RefSeq Acc Id: ENST00000650853
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1464,388,353 - 64,459,986 (+)Ensembl
RefSeq Acc Id: ENST00000651537   ⟹   ENSP00000498511
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1464,388,366 - 64,460,004 (+)Ensembl
RefSeq Acc Id: ENST00000651891
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1464,447,973 - 64,460,006 (+)Ensembl
RefSeq Acc Id: ENST00000652179   ⟹   ENSP00000498649
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1464,388,314 - 64,459,994 (+)Ensembl
RefSeq Acc Id: ENST00000652337   ⟹   ENSP00000498336
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1464,388,353 - 64,460,025 (+)Ensembl
RefSeq Acc Id: ENST00000652503
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1464,415,638 - 64,421,598 (+)Ensembl
RefSeq Acc Id: ENST00000652509   ⟹   ENSP00000499176
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1464,424,844 - 64,460,004 (+)Ensembl
RefSeq Acc Id: NM_001364837   ⟹   NP_001351766
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381464,388,353 - 64,460,025 (+)NCBI
T2T-CHM13v2.01458,596,072 - 58,667,774 (+)NCBI
Sequence:
RefSeq Acc Id: NM_005956   ⟹   NP_005947
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381464,388,353 - 64,460,025 (+)NCBI
GRCh371464,854,754 - 64,926,725 (+)NCBI
Build 361463,924,846 - 63,996,474 (+)NCBI Archive
HuRef1445,027,910 - 45,099,523 (+)ENTREZGENE
CHM1_11464,794,532 - 64,866,438 (+)NCBI
T2T-CHM13v2.01458,596,072 - 58,667,774 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_005947   ⟸   NM_005956
- Peptide Label: isoform 1
- UniProtKB: P11586 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001351766   ⟸   NM_001364837
- Peptide Label: isoform 2
RefSeq Acc Id: ENSP00000450560   ⟸   ENST00000555709
RefSeq Acc Id: ENSP00000477199   ⟸   ENST00000557370
RefSeq Acc Id: ENSP00000476468   ⟸   ENST00000557539
RefSeq Acc Id: ENSP00000438588   ⟸   ENST00000545908
RefSeq Acc Id: ENSP00000498511   ⟸   ENST00000651537
RefSeq Acc Id: ENSP00000498649   ⟸   ENST00000652179
RefSeq Acc Id: ENSP00000499176   ⟸   ENST00000652509
RefSeq Acc Id: ENSP00000498336   ⟸   ENST00000652337
RefSeq Acc Id: ENSP00000477359   ⟸   ENST00000554739
RefSeq Acc Id: ENSP00000477501   ⟸   ENST00000554768
Protein Domains
THF_DHG_CYH   THF_DHG_CYH_C

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P11586-F1-model_v2 AlphaFold P11586 1-935 view protein structure

Promoters
RGD ID:6791757
Promoter ID:HG_KWN:19575
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_005956,   UC010AQE.1,   UC010AQF.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361463,923,871 - 63,924,922 (+)MPROMDB
RGD ID:7227849
Promoter ID:EPDNEW_H19670
Type:multiple initiation site
Name:MTHFD1_2
Description:methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolatesynthetase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H19671  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381464,388,124 - 64,388,184EPDNEW
RGD ID:7227851
Promoter ID:EPDNEW_H19671
Type:initiation region
Name:MTHFD1_1
Description:methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolatesynthetase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H19670  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381464,388,353 - 64,388,413EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_005956.4(MTHFD1):c.878G>A (p.Arg293His) single nucleotide variant Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia [RCV002054438]|Spina bifida, folate-sensitive, susceptibility to [RCV000014602]|not provided [RCV000880050] Chr14:64425752 [GRCh38]
Chr14:64892470 [GRCh37]
Chr14:14q23.3
risk factor|likely benign|uncertain significance
NM_005956.4(MTHFD1):c.1958G>A (p.Arg653Gln) single nucleotide variant Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia [RCV001775541]|Neural tube defects, folate-sensitive, susceptibility to [RCV000014603]|not provided [RCV001513968]|not specified [RCV000455528] Chr14:64442127 [GRCh38]
Chr14:64908845 [GRCh37]
Chr14:14q23.3
risk factor|benign|likely benign
GRCh38/hg38 14q23.1-23.3(chr14:59917051-66750803)x1 copy number loss See cases [RCV000050892] Chr14:59917051..66750803 [GRCh38]
Chr14:60383769..67217521 [GRCh37]
Chr14:59453522..66287274 [NCBI36]
Chr14:14q23.1-23.3
pathogenic
GRCh38/hg38 14q22.3-23.3(chr14:57041036-67208231)x1 copy number loss See cases [RCV000051521] Chr14:57041036..67208231 [GRCh38]
Chr14:57507754..67674948 [GRCh37]
Chr14:56577507..66744701 [NCBI36]
Chr14:14q22.3-23.3
pathogenic
NM_005956.4(MTHFD1):c.2684T>C (p.Val895Ala) single nucleotide variant not provided [RCV001997787] Chr14:64454841 [GRCh38]
Chr14:64921559 [GRCh37]
Chr14:14q23.3
uncertain significance
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3 copy number gain See cases [RCV000135543] Chr14:20151149..106855263 [GRCh38]
Chr14:20619308..107263478 [GRCh37]
Chr14:19689148..106334523 [NCBI36]
Chr14:14q11.2-32.33
pathogenic
GRCh38/hg38 14q23.2-23.3(chr14:62252700-65753416)x1 copy number loss See cases [RCV000138250] Chr14:62252700..65753416 [GRCh38]
Chr14:62719418..66220134 [GRCh37]
Chr14:61789171..65289887 [NCBI36]
Chr14:14q23.2-23.3
pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3 copy number gain See cases [RCV000143373] Chr14:20043514..106877229 [GRCh38]
Chr14:20511673..107285437 [GRCh37]
Chr14:19581513..106356482 [NCBI36]
Chr14:14q11.2-32.33
pathogenic
NM_005956.4(MTHFD1):c.1493A>C (p.Lys498Thr) single nucleotide variant Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia [RCV001331498]|not specified [RCV000202864] Chr14:64431860 [GRCh38]
Chr14:64898578 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_005956.4(MTHFD1):c.826G>C (p.Gly276Arg) single nucleotide variant Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia [RCV001252952]|not provided [RCV000190389] Chr14:64424902 [GRCh38]
Chr14:64891620 [GRCh37]
Chr14:14q23.3
pathogenic|not provided
NM_005956.4(MTHFD1):c.298C>T (p.Gln100Ter) single nucleotide variant not provided [RCV000579237] Chr14:64415415 [GRCh38]
Chr14:64882133 [GRCh37]
Chr14:14q23.3
likely pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3 copy number gain See cases [RCV000446256] Chr14:19794561..107234280 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
GRCh37/hg19 14q23.2-32.33(chr14:62493932-107285437)x3 copy number gain See cases [RCV000448557] Chr14:62493932..107285437 [GRCh37]
Chr14:14q23.2-32.33
pathogenic
NM_005956.4(MTHFD1):c.673G>T (p.Glu225Ter) single nucleotide variant Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia [RCV000515548] Chr14:64419871 [GRCh38]
Chr14:64886589 [GRCh37]
Chr14:14q23.3
pathogenic
NM_005956.4(MTHFD1):c.401A>G (p.Lys134Arg) single nucleotide variant Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia [RCV001775796]|not provided [RCV001516295]|not specified [RCV000455974] Chr14:64415662 [GRCh38]
Chr14:64882380 [GRCh37]
Chr14:14q23.3
benign
GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437) copy number gain See cases [RCV000512041] Chr14:20511673..107285437 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
NG_012450.1:g.(45534_?)_(?_47555)del deletion Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia [RCV000515543]   pathogenic
NM_005956.4(MTHFD1):c.727+1G>A single nucleotide variant Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia [RCV000515542] Chr14:64419926 [GRCh38]
Chr14:64886644 [GRCh37]
Chr14:14q23.3
pathogenic
NM_005956.4(MTHFD1):c.152T>C (p.Leu51Pro) single nucleotide variant Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia [RCV000515547] Chr14:64411115 [GRCh38]
Chr14:64877833 [GRCh37]
Chr14:14q23.3
pathogenic|likely pathogenic
NM_005956.4(MTHFD1):c.1674G>A (p.Thr558=) single nucleotide variant Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia [RCV000515544] Chr14:64439172 [GRCh38]
Chr14:64905890 [GRCh37]
Chr14:14q23.3
pathogenic
NM_005956.4(MTHFD1):c.146C>T (p.Ser49Phe) single nucleotide variant Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia [RCV000515546]|Severe combined immunodeficiency disease [RCV001797742]|not provided [RCV001380971] Chr14:64411109 [GRCh38]
Chr14:64877827 [GRCh37]
Chr14:14q23.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_005956.4(MTHFD1):c.517C>T (p.Arg173Cys) single nucleotide variant Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia [RCV000515545]|not provided [RCV001340738] Chr14:64417926 [GRCh38]
Chr14:64884644 [GRCh37]
Chr14:14q23.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_005956.4(MTHFD1):c.806C>T (p.Thr269Ile) single nucleotide variant Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia [RCV000515549] Chr14:64424882 [GRCh38]
Chr14:64891600 [GRCh37]
Chr14:14q23.3
pathogenic|likely pathogenic
NM_005956.4(MTHFD1):c.2283G>A (p.Thr761=) single nucleotide variant not provided [RCV001997404] Chr14:64449448 [GRCh38]
Chr14:64916166 [GRCh37]
Chr14:14q23.3
uncertain significance
GRCh37/hg19 14q11.1-32.33(chr14:19000422-107289053)x3 copy number gain not provided [RCV000738412] Chr14:19000422..107289053 [GRCh37]
Chr14:14q11.1-32.33
pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19280733-107287663)x3 copy number gain not provided [RCV000738413] Chr14:19280733..107287663 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19327823-107287663)x3 copy number gain not provided [RCV000738414] Chr14:19327823..107287663 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
NM_005956.4(MTHFD1):c.1128-10C>T single nucleotide variant not provided [RCV001703007] Chr14:64427327 [GRCh38]
Chr14:64894045 [GRCh37]
Chr14:14q23.3
benign|likely benign
NM_005956.4(MTHFD1):c.2566-4C>T single nucleotide variant not provided [RCV000970268] Chr14:64454719 [GRCh38]
Chr14:64921437 [GRCh37]
Chr14:14q23.3
benign
NM_005956.4(MTHFD1):c.2408A>G (p.Gln803Arg) single nucleotide variant not provided [RCV000914572] Chr14:64449573 [GRCh38]
Chr14:64916291 [GRCh37]
Chr14:14q23.3
likely benign
NM_005956.4(MTHFD1):c.1932T>C (p.His644=) single nucleotide variant not provided [RCV000915927] Chr14:64442101 [GRCh38]
Chr14:64908819 [GRCh37]
Chr14:14q23.3
likely benign
NM_005956.4(MTHFD1):c.1311+8A>G single nucleotide variant not provided [RCV000971608] Chr14:64430238 [GRCh38]
Chr14:64896956 [GRCh37]
Chr14:14q23.3
benign
NM_005956.4(MTHFD1):c.1494+13del deletion not provided [RCV000923820] Chr14:64431868 [GRCh38]
Chr14:64898586 [GRCh37]
Chr14:14q23.3
benign
NM_005956.4(MTHFD1):c.2679C>G (p.Ala893=) single nucleotide variant not provided [RCV000924020] Chr14:64454836 [GRCh38]
Chr14:64921554 [GRCh37]
Chr14:14q23.3
likely benign
NM_005956.4(MTHFD1):c.777C>T (p.Asp259=) single nucleotide variant not provided [RCV000916243] Chr14:64424853 [GRCh38]
Chr14:64891571 [GRCh37]
Chr14:14q23.3
likely benign
NM_005956.4(MTHFD1):c.1561T>C (p.Leu521=) single nucleotide variant not provided [RCV000905214] Chr14:64435635 [GRCh38]
Chr14:64902353 [GRCh37]
Chr14:14q23.3
benign
NM_005956.4(MTHFD1):c.336A>G (p.Glu112=) single nucleotide variant not provided [RCV000915635] Chr14:64415453 [GRCh38]
Chr14:64882171 [GRCh37]
Chr14:14q23.3
likely benign
NM_005956.4(MTHFD1):c.2305C>T (p.Leu769Phe) single nucleotide variant not provided [RCV000960599]|not specified [RCV001844249] Chr14:64449470 [GRCh38]
Chr14:64916188 [GRCh37]
Chr14:14q23.3
benign|likely benign
NM_005956.4(MTHFD1):c.599C>T (p.Ala200Val) single nucleotide variant not provided [RCV000885497] Chr14:64418008 [GRCh38]
Chr14:64884726 [GRCh37]
Chr14:14q23.3
likely benign
NM_005956.4(MTHFD1):c.920A>G (p.Tyr307Cys) single nucleotide variant not provided [RCV000886187] Chr14:64425794 [GRCh38]
Chr14:64892512 [GRCh37]
Chr14:14q23.3
benign
NM_005956.4(MTHFD1):c.2463A>T (p.Pro821=) single nucleotide variant not provided [RCV000932803] Chr14:64453759 [GRCh38]
Chr14:64920477 [GRCh37]
Chr14:14q23.3
likely benign
NM_005956.4(MTHFD1):c.1269C>T (p.Gly423=) single nucleotide variant not provided [RCV000939932] Chr14:64430188 [GRCh38]
Chr14:64896906 [GRCh37]
Chr14:14q23.3
likely benign
NM_005956.4(MTHFD1):c.2315G>A (p.Arg772His) single nucleotide variant not provided [RCV000962503] Chr14:64449480 [GRCh38]
Chr14:64916198 [GRCh37]
Chr14:14q23.3
benign
NM_005956.4(MTHFD1):c.53C>T (p.Ala18Val) single nucleotide variant not provided [RCV000974393] Chr14:64400804 [GRCh38]
Chr14:64867522 [GRCh37]
Chr14:14q23.3
likely benign
NM_005956.4(MTHFD1):c.492C>T (p.Ala164=) single nucleotide variant not provided [RCV000912054] Chr14:64417901 [GRCh38]
Chr14:64884619 [GRCh37]
Chr14:14q23.3
benign
NM_005956.4(MTHFD1):c.1871T>C (p.Met624Thr) single nucleotide variant not provided [RCV000995189] Chr14:64441440 [GRCh38]
Chr14:64908158 [GRCh37]
Chr14:14q23.3
uncertain significance
GRCh37/hg19 14q23.1-23.3(chr14:61409856-65742610)x3 copy number gain not provided [RCV001259780] Chr14:61409856..65742610 [GRCh37]
Chr14:14q23.1-23.3
likely pathogenic
NM_005956.4(MTHFD1):c.1265-4C>T single nucleotide variant Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia [RCV001331497] Chr14:64430180 [GRCh38]
Chr14:64896898 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_005956.4(MTHFD1):c.109C>T (p.Arg37Cys) single nucleotide variant not provided [RCV001280975] Chr14:64400860 [GRCh38]
Chr14:64867578 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_005956.4(MTHFD1):c.1141C>A (p.Pro381Thr) single nucleotide variant not provided [RCV001964362] Chr14:64427350 [GRCh38]
Chr14:64894068 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_005956.4(MTHFD1):c.1390A>G (p.Ile464Val) single nucleotide variant not provided [RCV001362072] Chr14:64431610 [GRCh38]
Chr14:64898328 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_005956.4(MTHFD1):c.388A>G (p.Ile130Val) single nucleotide variant not provided [RCV001371701] Chr14:64415649 [GRCh38]
Chr14:64882367 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_005956.4(MTHFD1):c.1171A>G (p.Ile391Val) single nucleotide variant not provided [RCV001294435] Chr14:64427380 [GRCh38]
Chr14:64894098 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_005956.4(MTHFD1):c.1981C>T (p.Pro661Ser) single nucleotide variant not provided [RCV001347189] Chr14:64442150 [GRCh38]
Chr14:64908868 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_005956.4(MTHFD1):c.1040T>C (p.Leu347Ser) single nucleotide variant not provided [RCV001304781] Chr14:64426105 [GRCh38]
Chr14:64892823 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_005956.4(MTHFD1):c.186+4dup duplication not provided [RCV001440811] Chr14:64411151..64411152 [GRCh38]
Chr14:64877869..64877870 [GRCh37]
Chr14:14q23.3
likely benign
GRCh37/hg19 14q22.2-24.3(chr14:54654001-75828024)x3 copy number gain 14q22.2q24.3 duplication [RCV001506967] Chr14:54654001..75828024 [GRCh37]
Chr14:14q22.2-24.3
likely pathogenic
NM_005956.4(MTHFD1):c.2458-7G>A single nucleotide variant not provided [RCV001504571] Chr14:64453747 [GRCh38]
Chr14:64920465 [GRCh37]
Chr14:14q23.3
likely benign
NM_005956.4(MTHFD1):c.1996+9T>C single nucleotide variant not provided [RCV001449233] Chr14:64442174 [GRCh38]
Chr14:64908892 [GRCh37]
Chr14:14q23.3
likely benign
NM_005956.4(MTHFD1):c.1494+20C>A single nucleotide variant not provided [RCV001519449] Chr14:64431881 [GRCh38]
Chr14:64898599 [GRCh37]
Chr14:14q23.3
benign
NM_005956.4(MTHFD1):c.702C>T (p.Ile234=) single nucleotide variant not provided [RCV001473893] Chr14:64419900 [GRCh38]
Chr14:64886618 [GRCh37]
Chr14:14q23.3
likely benign
NM_005956.4(MTHFD1):c.1885-20C>T single nucleotide variant not provided [RCV001512593] Chr14:64442034 [GRCh38]
Chr14:64908752 [GRCh37]
Chr14:14q23.3
benign
NM_005956.4(MTHFD1):c.954-12A>G single nucleotide variant not provided [RCV001513427] Chr14:64426007 [GRCh38]
Chr14:64892725 [GRCh37]
Chr14:14q23.3
benign
NM_005956.4(MTHFD1):c.1127+19T>C single nucleotide variant not provided [RCV001513207] Chr14:64426211 [GRCh38]
Chr14:64892929 [GRCh37]
Chr14:14q23.3
benign
NM_005956.4(MTHFD1):c.2282C>T (p.Thr761Met) single nucleotide variant not provided [RCV001515009] Chr14:64449447 [GRCh38]
Chr14:64916165 [GRCh37]
Chr14:14q23.3
benign
NM_005956.4(MTHFD1):c.24C>A (p.Asn8Lys) single nucleotide variant Neural tube defects, folate-sensitive [RCV001764174] Chr14:64388451 [GRCh38]
Chr14:64855169 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_005956.4(MTHFD1):c.2136+31G>A single nucleotide variant Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia [RCV001775528] Chr14:64442433 [GRCh38]
Chr14:64909151 [GRCh37]
Chr14:14q23.3
benign
NM_005956.4(MTHFD1):c.1141C>T (p.Pro381Ser) single nucleotide variant not provided [RCV002008474] Chr14:64427350 [GRCh38]
Chr14:64894068 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_005956.4(MTHFD1):c.2138T>C (p.Val713Ala) single nucleotide variant not provided [RCV002040182] Chr14:64444694 [GRCh38]
Chr14:64911412 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_005956.4(MTHFD1):c.1754G>A (p.Arg585Lys) single nucleotide variant not provided [RCV001874821] Chr14:64440205 [GRCh38]
Chr14:64906923 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_005956.4(MTHFD1):c.953+1G>A single nucleotide variant not provided [RCV002043975] Chr14:64425828 [GRCh38]
Chr14:64892546 [GRCh37]
Chr14:14q23.3
likely pathogenic
NM_005956.4(MTHFD1):c.943C>G (p.Pro315Ala) single nucleotide variant not provided [RCV001874865] Chr14:64425817 [GRCh38]
Chr14:64892535 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_005956.4(MTHFD1):c.1205A>C (p.Tyr402Ser) single nucleotide variant not provided [RCV001949880] Chr14:64427414 [GRCh38]
Chr14:64894132 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_005956.4(MTHFD1):c.2590A>G (p.Met864Val) single nucleotide variant not provided [RCV002017656] Chr14:64454747 [GRCh38]
Chr14:64921465 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_005956.4(MTHFD1):c.68A>G (p.Gln23Arg) single nucleotide variant not provided [RCV002044798] Chr14:64400819 [GRCh38]
Chr14:64867537 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_005956.4(MTHFD1):c.1798G>A (p.Val600Ile) single nucleotide variant not provided [RCV002008818] Chr14:64440249 [GRCh38]
Chr14:64906967 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_005956.4(MTHFD1):c.2314C>T (p.Arg772Cys) single nucleotide variant not provided [RCV002024516] Chr14:64449479 [GRCh38]
Chr14:64916197 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_005956.4(MTHFD1):c.1457T>A (p.Val486Glu) single nucleotide variant not provided [RCV002023763] Chr14:64431824 [GRCh38]
Chr14:64898542 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_005956.4(MTHFD1):c.353T>C (p.Ile118Thr) single nucleotide variant not provided [RCV001894919] Chr14:64415470 [GRCh38]
Chr14:64882188 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_005956.4(MTHFD1):c.655C>A (p.Pro219Thr) single nucleotide variant not provided [RCV001895629] Chr14:64419853 [GRCh38]
Chr14:64886571 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_005956.4(MTHFD1):c.2482A>G (p.Ile828Val) single nucleotide variant not provided [RCV002026940] Chr14:64453778 [GRCh38]
Chr14:64920496 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_005956.4(MTHFD1):c.1505T>C (p.Ile502Thr) single nucleotide variant not provided [RCV001966871] Chr14:64435579 [GRCh38]
Chr14:64902297 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_005956.4(MTHFD1):c.1043A>G (p.Tyr348Cys) single nucleotide variant not provided [RCV001912143] Chr14:64426108 [GRCh38]
Chr14:64892826 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_005956.4(MTHFD1):c.1502G>T (p.Gly501Val) single nucleotide variant not provided [RCV002006386] Chr14:64435576 [GRCh38]
Chr14:64902294 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_005956.4(MTHFD1):c.1420G>C (p.Ala474Pro) single nucleotide variant not provided [RCV001895576] Chr14:64431787 [GRCh38]
Chr14:64898505 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_005956.4(MTHFD1):c.2086G>A (p.Val696Met) single nucleotide variant not provided [RCV002044517] Chr14:64442352 [GRCh38]
Chr14:64909070 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_005956.4(MTHFD1):c.2077C>G (p.His693Asp) single nucleotide variant not provided [RCV001872897] Chr14:64442343 [GRCh38]
Chr14:64909061 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_005956.4(MTHFD1):c.695T>C (p.Ile232Thr) single nucleotide variant not provided [RCV002022250] Chr14:64419893 [GRCh38]
Chr14:64886611 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_005956.4(MTHFD1):c.186+5C>T single nucleotide variant not provided [RCV001872528] Chr14:64411154 [GRCh38]
Chr14:64877872 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_005956.4(MTHFD1):c.1388G>A (p.Arg463Gln) single nucleotide variant not provided [RCV002003828] Chr14:64431608 [GRCh38]
Chr14:64898326 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_005956.4(MTHFD1):c.1213G>A (p.Val405Ile) single nucleotide variant not provided [RCV002007951] Chr14:64427422 [GRCh38]
Chr14:64894140 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_005956.4(MTHFD1):c.1096C>T (p.Arg366Trp) single nucleotide variant not provided [RCV001947342] Chr14:64426161 [GRCh38]
Chr14:64892879 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_005956.4(MTHFD1):c.1127+4T>C single nucleotide variant not provided [RCV001965307] Chr14:64426196 [GRCh38]
Chr14:64892914 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_005956.4(MTHFD1):c.646A>G (p.Thr216Ala) single nucleotide variant not provided [RCV001970364] Chr14:64419844 [GRCh38]
Chr14:64886562 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_005956.4(MTHFD1):c.1333G>A (p.Asp445Asn) single nucleotide variant not provided [RCV001945983] Chr14:64431553 [GRCh38]
Chr14:64898271 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_005956.4(MTHFD1):c.2666G>A (p.Arg889His) single nucleotide variant not provided [RCV002028213] Chr14:64454823 [GRCh38]
Chr14:64921541 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_005956.4(MTHFD1):c.2668G>A (p.Asp890Asn) single nucleotide variant not provided [RCV002033281] Chr14:64454825 [GRCh38]
Chr14:64921543 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_005956.4(MTHFD1):c.1007G>A (p.Arg336Gln) single nucleotide variant not provided [RCV002041114] Chr14:64426072 [GRCh38]
Chr14:64892790 [GRCh37]
Chr14:14q23.3
uncertain significance
NC_000014.8:g.(?_64746679)_(66975329_?)del deletion Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002007295] Chr14:64746679..66975329 [GRCh37]
Chr14:14q23.2-23.3
pathogenic
NM_005956.4(MTHFD1):c.2675G>A (p.Arg892His) single nucleotide variant not provided [RCV002036618] Chr14:64454832 [GRCh38]
Chr14:64921550 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_005956.4(MTHFD1):c.1200T>A (p.His400Gln) single nucleotide variant not provided [RCV002020374] Chr14:64427409 [GRCh38]
Chr14:64894127 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_005956.4(MTHFD1):c.2576A>G (p.Asn859Ser) single nucleotide variant not provided [RCV002018930] Chr14:64454733 [GRCh38]
Chr14:64921451 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_005956.4(MTHFD1):c.2801T>C (p.Leu934Ser) single nucleotide variant not provided [RCV002047767] Chr14:64458296 [GRCh38]
Chr14:64925014 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_005956.4(MTHFD1):c.2558C>T (p.Thr853Met) single nucleotide variant not provided [RCV001924207] Chr14:64453854 [GRCh38]
Chr14:64920572 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_005956.4(MTHFD1):c.939G>C (p.Lys313Asn) single nucleotide variant not provided [RCV001931057] Chr14:64425813 [GRCh38]
Chr14:64892531 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_005956.4(MTHFD1):c.1033G>A (p.Val345Ile) single nucleotide variant not provided [RCV001899306] Chr14:64426098 [GRCh38]
Chr14:64892816 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_005956.4(MTHFD1):c.407C>G (p.Ala136Gly) single nucleotide variant not provided [RCV001942793] Chr14:64415668 [GRCh38]
Chr14:64882386 [GRCh37]
Chr14:14q23.3
uncertain significance
NC_000014.8:g.(?_64902267)_(64916360_?)del deletion not provided [RCV001992834] Chr14:64902267..64916360 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_005956.4(MTHFD1):c.2717C>T (p.Thr906Met) single nucleotide variant not provided [RCV001911498] Chr14:64454874 [GRCh38]
Chr14:64921592 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_005956.4(MTHFD1):c.352A>G (p.Ile118Val) single nucleotide variant not provided [RCV001976029] Chr14:64415469 [GRCh38]
Chr14:64882187 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_005956.4(MTHFD1):c.1512G>C (p.Lys504Asn) single nucleotide variant not provided [RCV002046292] Chr14:64435586 [GRCh38]
Chr14:64902304 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_005956.4(MTHFD1):c.1311+3A>G single nucleotide variant not provided [RCV002036848] Chr14:64430233 [GRCh38]
Chr14:64896951 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_005956.4(MTHFD1):c.1913C>T (p.Pro638Leu) single nucleotide variant not provided [RCV001957522] Chr14:64442082 [GRCh38]
Chr14:64908800 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_005956.4(MTHFD1):c.1114G>T (p.Val372Leu) single nucleotide variant not provided [RCV001990904] Chr14:64426179 [GRCh38]
Chr14:64892897 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_005956.4(MTHFD1):c.394G>A (p.Ala132Thr) single nucleotide variant not provided [RCV001990931] Chr14:64415655 [GRCh38]
Chr14:64882373 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_005956.4(MTHFD1):c.2755T>A (p.Phe919Ile) single nucleotide variant not provided [RCV001924984] Chr14:64458250 [GRCh38]
Chr14:64924968 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_005956.4(MTHFD1):c.2648G>A (p.Gly883Asp) single nucleotide variant not provided [RCV001952091] Chr14:64454805 [GRCh38]
Chr14:64921523 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_005956.4(MTHFD1):c.1652C>T (p.Thr551Met) single nucleotide variant not provided [RCV001935209] Chr14:64439150 [GRCh38]
Chr14:64905868 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_005956.4(MTHFD1):c.2530G>A (p.Glu844Lys) single nucleotide variant not provided [RCV001930385] Chr14:64453826 [GRCh38]
Chr14:64920544 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_005956.4(MTHFD1):c.2665C>T (p.Arg889Cys) single nucleotide variant not provided [RCV001989838] Chr14:64454822 [GRCh38]
Chr14:64921540 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_005956.4(MTHFD1):c.2404G>A (p.Val802Ile) single nucleotide variant not provided [RCV001935141] Chr14:64449569 [GRCh38]
Chr14:64916287 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_005956.4(MTHFD1):c.959T>C (p.Ile320Thr) single nucleotide variant not provided [RCV001991555] Chr14:64426024 [GRCh38]
Chr14:64892742 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_005956.4(MTHFD1):c.2719-6T>A single nucleotide variant not provided [RCV001909812] Chr14:64458208 [GRCh38]
Chr14:64924926 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_005956.4(MTHFD1):c.2747G>A (p.Arg916Gln) single nucleotide variant not provided [RCV001909266] Chr14:64458242 [GRCh38]
Chr14:64924960 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_005956.4(MTHFD1):c.479G>A (p.Gly160Glu) single nucleotide variant not provided [RCV001867785] Chr14:64417888 [GRCh38]
Chr14:64884606 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_005956.4(MTHFD1):c.341T>C (p.Val114Ala) single nucleotide variant not provided [RCV001881917] Chr14:64415458 [GRCh38]
Chr14:64882176 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_005956.4(MTHFD1):c.295G>A (p.Val99Met) single nucleotide variant not provided [RCV001989262] Chr14:64415412 [GRCh38]
Chr14:64882130 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_005956.4(MTHFD1):c.1985A>G (p.Glu662Gly) single nucleotide variant not provided [RCV001936797] Chr14:64442154 [GRCh38]
Chr14:64908872 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_005956.4(MTHFD1):c.2565+13T>G single nucleotide variant not provided [RCV001888853] Chr14:64453874 [GRCh38]
Chr14:64920592 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_005956.4(MTHFD1):c.1957C>T (p.Arg653Trp) single nucleotide variant not provided [RCV002033272] Chr14:64442126 [GRCh38]
Chr14:64908844 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_005956.4(MTHFD1):c.186+6G>A single nucleotide variant not provided [RCV001897548] Chr14:64411155 [GRCh38]
Chr14:64877873 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_005956.4(MTHFD1):c.983C>T (p.Pro328Leu) single nucleotide variant not provided [RCV001921111] Chr14:64426048 [GRCh38]
Chr14:64892766 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_005956.4(MTHFD1):c.187-15A>G single nucleotide variant not provided [RCV001990854] Chr14:64412457 [GRCh38]
Chr14:64879175 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_005956.4(MTHFD1):c.2201G>C (p.Gly734Ala) single nucleotide variant not provided [RCV001960864] Chr14:64448239 [GRCh38]
Chr14:64914957 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_005956.4(MTHFD1):c.2457+4G>C single nucleotide variant not provided [RCV001925699] Chr14:64449626 [GRCh38]
Chr14:64916344 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_005956.4(MTHFD1):c.2718+20G>T single nucleotide variant not provided [RCV001898673] Chr14:64454895 [GRCh38]
Chr14:64921613 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_005956.4(MTHFD1):c.1553T>A (p.Phe518Tyr) single nucleotide variant not provided [RCV002049420] Chr14:64435627 [GRCh38]
Chr14:64902345 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_005956.4(MTHFD1):c.1504A>T (p.Ile502Phe) single nucleotide variant not provided [RCV001883854] Chr14:64435578 [GRCh38]
Chr14:64902296 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_005956.4(MTHFD1):c.517C>G (p.Arg173Gly) single nucleotide variant not provided [RCV002036185] Chr14:64417926 [GRCh38]
Chr14:64884644 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_005956.4(MTHFD1):c.2548G>T (p.Glu850Ter) single nucleotide variant not provided [RCV001904392] Chr14:64453844 [GRCh38]
Chr14:64920562 [GRCh37]
Chr14:14q23.3
pathogenic
NM_005956.4(MTHFD1):c.1661G>A (p.Gly554Asp) single nucleotide variant not provided [RCV002047081] Chr14:64439159 [GRCh38]
Chr14:64905877 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_005956.4(MTHFD1):c.2279+6T>C single nucleotide variant not provided [RCV002013341] Chr14:64448323 [GRCh38]
Chr14:64915041 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_005956.4(MTHFD1):c.619A>T (p.Asn207Tyr) single nucleotide variant not provided [RCV002017300] Chr14:64419817 [GRCh38]
Chr14:64886535 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_005956.4(MTHFD1):c.685C>T (p.Pro229Ser) single nucleotide variant not provided [RCV001924073] Chr14:64419883 [GRCh38]
Chr14:64886601 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_005956.4(MTHFD1):c.610G>A (p.Glu204Lys) single nucleotide variant not provided [RCV001907142] Chr14:64418019 [GRCh38]
Chr14:64884737 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_005956.4(MTHFD1):c.739C>T (p.Pro247Ser) single nucleotide variant not provided [RCV001972183] Chr14:64424815 [GRCh38]
Chr14:64891533 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_005956.4(MTHFD1):c.2092G>A (p.Val698Ile) single nucleotide variant not provided [RCV002033422] Chr14:64442358 [GRCh38]
Chr14:64909076 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_005956.4(MTHFD1):c.223A>T (p.Thr75Ser) single nucleotide variant not provided [RCV001974890] Chr14:64412508 [GRCh38]
Chr14:64879226 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_005956.4(MTHFD1):c.1373C>T (p.Ala458Val) single nucleotide variant not provided [RCV001906239] Chr14:64431593 [GRCh38]
Chr14:64898311 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_005956.4(MTHFD1):c.1456G>A (p.Val486Met) single nucleotide variant not provided [RCV001976443] Chr14:64431823 [GRCh38]
Chr14:64898541 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_005956.4(MTHFD1):c.1330G>A (p.Gly444Ser) single nucleotide variant not provided [RCV002014174] Chr14:64431550 [GRCh38]
Chr14:64898268 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_005956.4(MTHFD1):c.2412A>G (p.Arg804=) single nucleotide variant not provided [RCV001956652] Chr14:64449577 [GRCh38]
Chr14:64916295 [GRCh37]
Chr14:14q23.3
likely benign
NM_005956.4(MTHFD1):c.1074A>C (p.Ser358=) single nucleotide variant not provided [RCV001933764] Chr14:64426139 [GRCh38]
Chr14:64892857 [GRCh37]
Chr14:14q23.3
likely benign
NM_005956.4(MTHFD1):c.1311+5dup duplication not provided [RCV002017960] Chr14:64430232..64430233 [GRCh38]
Chr14:64896950..64896951 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_005956.4(MTHFD1):c.970C>T (p.Arg324Ter) single nucleotide variant not provided [RCV001960657] Chr14:64426035 [GRCh38]
Chr14:64892753 [GRCh37]
Chr14:14q23.3
pathogenic
NM_005956.4(MTHFD1):c.730G>T (p.Asp244Tyr) single nucleotide variant not provided [RCV001977355] Chr14:64424806 [GRCh38]
Chr14:64891524 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_005956.4(MTHFD1):c.954-10G>A single nucleotide variant not provided [RCV001906554] Chr14:64426009 [GRCh38]
Chr14:64892727 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_005956.4(MTHFD1):c.1673C>T (p.Thr558Met) single nucleotide variant not provided [RCV001981540] Chr14:64439171 [GRCh38]
Chr14:64905889 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_005956.4(MTHFD1):c.1782T>A (p.Ser594Arg) single nucleotide variant not provided [RCV001906725] Chr14:64440233 [GRCh38]
Chr14:64906951 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_005956.4(MTHFD1):c.2353T>C (p.Cys785Arg) single nucleotide variant not provided [RCV001901232] Chr14:64449518 [GRCh38]
Chr14:64916236 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_005956.4(MTHFD1):c.740C>G (p.Pro247Arg) single nucleotide variant not provided [RCV002014170] Chr14:64424816 [GRCh38]
Chr14:64891534 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_005956.4(MTHFD1):c.1543A>T (p.Ile515Leu) single nucleotide variant not provided [RCV001897108] Chr14:64435617 [GRCh38]
Chr14:64902335 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_005956.4(MTHFD1):c.999G>C (p.Lys333Asn) single nucleotide variant not provided [RCV001935987] Chr14:64426064 [GRCh38]
Chr14:64892782 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_005956.4(MTHFD1):c.2311A>G (p.Ser771Gly) single nucleotide variant not provided [RCV001912491] Chr14:64449476 [GRCh38]
Chr14:64916194 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_005956.4(MTHFD1):c.947T>C (p.Val316Ala) single nucleotide variant not provided [RCV001952352] Chr14:64425821 [GRCh38]
Chr14:64892539 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_005956.4(MTHFD1):c.104C>T (p.Thr35Ile) single nucleotide variant not provided [RCV001993938] Chr14:64400855 [GRCh38]
Chr14:64867573 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_005956.4(MTHFD1):c.241-13G>A single nucleotide variant not provided [RCV002192261] Chr14:64415345 [GRCh38]
Chr14:64882063 [GRCh37]
Chr14:14q23.3
benign
NM_005956.4(MTHFD1):c.2256A>G (p.Val752=) single nucleotide variant not provided [RCV002130579] Chr14:64448294 [GRCh38]
Chr14:64915012 [GRCh37]
Chr14:14q23.3
likely benign
NM_005956.4(MTHFD1):c.906G>A (p.Lys302=) single nucleotide variant not provided [RCV002073548] Chr14:64425780 [GRCh38]
Chr14:64892498 [GRCh37]
Chr14:14q23.3
likely benign
NM_005956.4(MTHFD1):c.1311+11C>G single nucleotide variant not provided [RCV002187711] Chr14:64430241 [GRCh38]
Chr14:64896959 [GRCh37]
Chr14:14q23.3
benign
NM_005956.4(MTHFD1):c.822C>T (p.Gly274=) single nucleotide variant not provided [RCV002090413] Chr14:64424898 [GRCh38]
Chr14:64891616 [GRCh37]
Chr14:14q23.3
likely benign
NM_005956.4(MTHFD1):c.2718+17A>G single nucleotide variant not provided [RCV002131426] Chr14:64454892 [GRCh38]
Chr14:64921610 [GRCh37]
Chr14:14q23.3
likely benign
NM_005956.4(MTHFD1):c.2427C>T (p.Pro809=) single nucleotide variant not provided [RCV002129927] Chr14:64449592 [GRCh38]
Chr14:64916310 [GRCh37]
Chr14:14q23.3
likely benign
NM_005956.4(MTHFD1):c.2280-16A>G single nucleotide variant not provided [RCV002133520] Chr14:64449429 [GRCh38]
Chr14:64916147 [GRCh37]
Chr14:14q23.3
likely benign
NM_005956.4(MTHFD1):c.241-17T>C single nucleotide variant not provided [RCV002089336] Chr14:64415341 [GRCh38]
Chr14:64882059 [GRCh37]
Chr14:14q23.3
likely benign
NM_005956.4(MTHFD1):c.1221G>A (p.Ala407=) single nucleotide variant not provided [RCV002111629] Chr14:64427430 [GRCh38]
Chr14:64894148 [GRCh37]
Chr14:14q23.3
likely benign
NM_005956.4(MTHFD1):c.2595T>C (p.Ala865=) single nucleotide variant not provided [RCV002173389] Chr14:64454752 [GRCh38]
Chr14:64921470 [GRCh37]
Chr14:14q23.3
likely benign
NM_005956.4(MTHFD1):c.2682C>T (p.Ser894=) single nucleotide variant not provided [RCV002087252] Chr14:64454839 [GRCh38]
Chr14:64921557 [GRCh37]
Chr14:14q23.3
likely benign
NM_005956.4(MTHFD1):c.615+8G>A single nucleotide variant not provided [RCV002164861] Chr14:64418032 [GRCh38]
Chr14:64884750 [GRCh37]
Chr14:14q23.3
likely benign
NM_005956.4(MTHFD1):c.1747A>C (p.Arg583=) single nucleotide variant not provided [RCV002208692] Chr14:64440198 [GRCh38]
Chr14:64906916 [GRCh37]
Chr14:14q23.3
likely benign
NM_005956.4(MTHFD1):c.1815+16C>T single nucleotide variant not provided [RCV002190980] Chr14:64440282 [GRCh38]
Chr14:64907000 [GRCh37]
Chr14:14q23.3
likely benign
NM_005956.4(MTHFD1):c.1221G>T (p.Ala407=) single nucleotide variant not provided [RCV002124354] Chr14:64427430 [GRCh38]
Chr14:64894148 [GRCh37]
Chr14:14q23.3
likely benign
NM_005956.4(MTHFD1):c.807T>G (p.Thr269=) single nucleotide variant not provided [RCV002209329] Chr14:64424883 [GRCh38]
Chr14:64891601 [GRCh37]
Chr14:14q23.3
likely benign
NM_005956.4(MTHFD1):c.2718+18G>A single nucleotide variant not provided [RCV002114785] Chr14:64454893 [GRCh38]
Chr14:64921611 [GRCh37]
Chr14:14q23.3
likely benign
NM_005956.4(MTHFD1):c.2667C>T (p.Arg889=) single nucleotide variant not provided [RCV002143145] Chr14:64454824 [GRCh38]
Chr14:64921542 [GRCh37]
Chr14:14q23.3
likely benign
NM_005956.4(MTHFD1):c.2565+17T>C single nucleotide variant not provided [RCV002137469] Chr14:64453878 [GRCh38]
Chr14:64920596 [GRCh37]
Chr14:14q23.3
likely benign
NM_005956.4(MTHFD1):c.1308A>G (p.Glu436=) single nucleotide variant not provided [RCV002191383] Chr14:64430227 [GRCh38]
Chr14:64896945 [GRCh37]
Chr14:14q23.3
likely benign
NM_005956.4(MTHFD1):c.1155G>C (p.Gly385=) single nucleotide variant not provided [RCV002125243] Chr14:64427364 [GRCh38]
Chr14:64894082 [GRCh37]
Chr14:14q23.3
likely benign
NM_005956.4(MTHFD1):c.2142T>C (p.Thr714=) single nucleotide variant not provided [RCV002075042] Chr14:64444698 [GRCh38]
Chr14:64911416 [GRCh37]
Chr14:14q23.3
likely benign
NM_005956.4(MTHFD1):c.276T>G (p.Ser92=) single nucleotide variant not provided [RCV002104803] Chr14:64415393 [GRCh38]
Chr14:64882111 [GRCh37]
Chr14:14q23.3
likely benign
NM_005956.4(MTHFD1):c.1014T>C (p.Ile338=) single nucleotide variant not provided [RCV002190120] Chr14:64426079 [GRCh38]
Chr14:64892797 [GRCh37]
Chr14:14q23.3
likely benign
NM_005956.4(MTHFD1):c.2719-17G>A single nucleotide variant not provided [RCV002116953] Chr14:64458197 [GRCh38]
Chr14:64924915 [GRCh37]
Chr14:14q23.3
benign
NM_005956.4(MTHFD1):c.1914G>A (p.Pro638=) single nucleotide variant not provided [RCV002075088] Chr14:64442083 [GRCh38]
Chr14:64908801 [GRCh37]
Chr14:14q23.3
likely benign
NM_005956.4(MTHFD1):c.18C>T (p.Ile6=) single nucleotide variant not provided [RCV002107423] Chr14:64388445 [GRCh38]
Chr14:64855163 [GRCh37]
Chr14:14q23.3
benign
NM_005956.4(MTHFD1):c.1668A>T (p.Thr556=) single nucleotide variant not provided [RCV002104533] Chr14:64439166 [GRCh38]
Chr14:64905884 [GRCh37]
Chr14:14q23.3
likely benign
NM_005956.4(MTHFD1):c.2739C>G (p.Leu913=) single nucleotide variant not provided [RCV002173377] Chr14:64458234 [GRCh38]
Chr14:64924952 [GRCh37]
Chr14:14q23.3
likely benign
NM_005956.4(MTHFD1):c.609T>C (p.Asp203=) single nucleotide variant not provided [RCV002174424] Chr14:64418018 [GRCh38]
Chr14:64884736 [GRCh37]
Chr14:14q23.3
likely benign
NM_005956.4(MTHFD1):c.1264+19C>A single nucleotide variant not provided [RCV002132165] Chr14:64427492 [GRCh38]
Chr14:64894210 [GRCh37]
Chr14:14q23.3
benign
NM_005956.4(MTHFD1):c.1498C>T (p.Leu500=) single nucleotide variant not provided [RCV002114159] Chr14:64435572 [GRCh38]
Chr14:64902290 [GRCh37]
Chr14:14q23.3
likely benign
NM_005956.4(MTHFD1):c.456C>T (p.Cys152=) single nucleotide variant not provided [RCV002214645] Chr14:64415717 [GRCh38]
Chr14:64882435 [GRCh37]
Chr14:14q23.3
likely benign
NM_005956.4(MTHFD1):c.727+11T>C single nucleotide variant not provided [RCV002153837] Chr14:64419936 [GRCh38]
Chr14:64886654 [GRCh37]
Chr14:14q23.3
likely benign
NM_005956.4(MTHFD1):c.2067C>T (p.Gly689=) single nucleotide variant not provided [RCV002072381] Chr14:64442333 [GRCh38]
Chr14:64909051 [GRCh37]
Chr14:14q23.3
likely benign
NM_005956.4(MTHFD1):c.1312-6T>C single nucleotide variant not provided [RCV002170727] Chr14:64431526 [GRCh38]
Chr14:64898244 [GRCh37]
Chr14:14q23.3
likely benign
NM_005956.4(MTHFD1):c.1122G>A (p.Val374=) single nucleotide variant not provided [RCV002195319] Chr14:64426187 [GRCh38]
Chr14:64892905 [GRCh37]
Chr14:14q23.3
likely benign
NM_005956.4(MTHFD1):c.1598-18C>A single nucleotide variant not provided [RCV002206245] Chr14:64439078 [GRCh38]
Chr14:64905796 [GRCh37]
Chr14:14q23.3
benign
NM_005956.4(MTHFD1):c.1806C>T (p.Ala602=) single nucleotide variant not provided [RCV002105655] Chr14:64440257 [GRCh38]
Chr14:64906975 [GRCh37]
Chr14:14q23.3
likely benign
NM_005956.4(MTHFD1):c.498G>A (p.Arg166=) single nucleotide variant not provided [RCV002125257] Chr14:64417907 [GRCh38]
Chr14:64884625 [GRCh37]
Chr14:14q23.3
likely benign
NM_005956.4(MTHFD1):c.1312-5T>C single nucleotide variant not provided [RCV002115364] Chr14:64431527 [GRCh38]
Chr14:64898245 [GRCh37]
Chr14:14q23.3
likely benign
NM_005956.4(MTHFD1):c.2137-17_2137-16del deletion not provided [RCV002194964] Chr14:64444675..64444676 [GRCh38]
Chr14:64911393..64911394 [GRCh37]
Chr14:14q23.3
benign
NM_005956.4(MTHFD1):c.728-11C>G single nucleotide variant not provided [RCV002133899] Chr14:64424793 [GRCh38]
Chr14:64891511 [GRCh37]
Chr14:14q23.3
likely benign
NM_005956.4(MTHFD1):c.1419+7T>C single nucleotide variant not provided [RCV002210345] Chr14:64431646 [GRCh38]
Chr14:64898364 [GRCh37]
Chr14:14q23.3
likely benign
NM_005956.4(MTHFD1):c.1127+11del deletion not provided [RCV002132493] Chr14:64426199 [GRCh38]
Chr14:64892917 [GRCh37]
Chr14:14q23.3
benign
NM_005956.4(MTHFD1):c.2137-7C>G single nucleotide variant not provided [RCV002189151] Chr14:64444686 [GRCh38]
Chr14:64911404 [GRCh37]
Chr14:14q23.3
likely benign
NM_005956.4(MTHFD1):c.187-16A>C single nucleotide variant not provided [RCV002171996] Chr14:64412456 [GRCh38]
Chr14:64879174 [GRCh37]
Chr14:14q23.3
likely benign
NM_005956.4(MTHFD1):c.2529C>T (p.Pro843=) single nucleotide variant not provided [RCV002122072] Chr14:64453825 [GRCh38]
Chr14:64920543 [GRCh37]
Chr14:14q23.3
likely benign
NM_005956.4(MTHFD1):c.594G>A (p.Lys198=) single nucleotide variant not provided [RCV002078600] Chr14:64418003 [GRCh38]
Chr14:64884721 [GRCh37]
Chr14:14q23.3
likely benign
NM_005956.4(MTHFD1):c.1675-20C>A single nucleotide variant not provided [RCV002155714] Chr14:64440106 [GRCh38]
Chr14:64906824 [GRCh37]
Chr14:14q23.3
likely benign
NM_005956.4(MTHFD1):c.478+16C>G single nucleotide variant not provided [RCV002154108] Chr14:64415755 [GRCh38]
Chr14:64882473 [GRCh37]
Chr14:14q23.3
likely benign
NM_005956.4(MTHFD1):c.2124G>A (p.Gly708=) single nucleotide variant not provided [RCV002102032] Chr14:64442390 [GRCh38]
Chr14:64909108 [GRCh37]
Chr14:14q23.3
likely benign
NM_005956.4(MTHFD1):c.186+15G>A single nucleotide variant not provided [RCV002179307] Chr14:64411164 [GRCh38]
Chr14:64877882 [GRCh37]
Chr14:14q23.3
likely benign
NM_005956.4(MTHFD1):c.828G>A (p.Gly276=) single nucleotide variant not provided [RCV002082345] Chr14:64424904 [GRCh38]
Chr14:64891622 [GRCh37]
Chr14:14q23.3
likely benign
NM_005956.4(MTHFD1):c.1312-15T>C single nucleotide variant not provided [RCV002139939] Chr14:64431517 [GRCh38]
Chr14:64898235 [GRCh37]
Chr14:14q23.3
likely benign
NM_005956.4(MTHFD1):c.1528C>T (p.Leu510=) single nucleotide variant not provided [RCV002163442] Chr14:64435602 [GRCh38]
Chr14:64902320 [GRCh37]
Chr14:14q23.3
likely benign
NM_005956.4(MTHFD1):c.903A>G (p.Gly301=) single nucleotide variant not provided [RCV002118201] Chr14:64425777 [GRCh38]
Chr14:64892495 [GRCh37]
Chr14:14q23.3
likely benign
NM_005956.4(MTHFD1):c.727+17G>C single nucleotide variant not provided [RCV002100525] Chr14:64419942 [GRCh38]
Chr14:64886660 [GRCh37]
Chr14:14q23.3
likely benign
NM_005956.4(MTHFD1):c.1816-20T>C single nucleotide variant not provided [RCV002124244] Chr14:64441365 [GRCh38]
Chr14:64908083 [GRCh37]
Chr14:14q23.3
likely benign
NM_005956.4(MTHFD1):c.2279+14G>T single nucleotide variant not provided [RCV002204570] Chr14:64448331 [GRCh38]
Chr14:64915049 [GRCh37]
Chr14:14q23.3
likely benign
NM_005956.4(MTHFD1):c.1598-12del deletion not provided [RCV002118680] Chr14:64439084 [GRCh38]
Chr14:64905802 [GRCh37]
Chr14:14q23.3
likely benign
NM_005956.4(MTHFD1):c.127-18A>G single nucleotide variant not provided [RCV002118681] Chr14:64411072 [GRCh38]
Chr14:64877790 [GRCh37]
Chr14:14q23.3
likely benign
NM_005956.4(MTHFD1):c.2028A>C (p.Gly676=) single nucleotide variant not provided [RCV002164316] Chr14:64442294 [GRCh38]
Chr14:64909012 [GRCh37]
Chr14:14q23.3
likely benign
NM_005956.4(MTHFD1):c.186+10G>C single nucleotide variant not provided [RCV002101243] Chr14:64411159 [GRCh38]
Chr14:64877877 [GRCh37]
Chr14:14q23.3
likely benign
NM_005956.4(MTHFD1):c.54G>A (p.Ala18=) single nucleotide variant not provided [RCV002155452] Chr14:64400805 [GRCh38]
Chr14:64867523 [GRCh37]
Chr14:14q23.3
likely benign
NM_005956.4(MTHFD1):c.478+11C>T single nucleotide variant not provided [RCV002144394] Chr14:64415750 [GRCh38]
Chr14:64882468 [GRCh37]
Chr14:14q23.3
likely benign
NM_005956.4(MTHFD1):c.1885-19G>A single nucleotide variant not provided [RCV002140886] Chr14:64442035 [GRCh38]
Chr14:64908753 [GRCh37]
Chr14:14q23.3
likely benign
NM_005956.4(MTHFD1):c.1312-4G>A single nucleotide variant not provided [RCV002136166] Chr14:64431528 [GRCh38]
Chr14:64898246 [GRCh37]
Chr14:14q23.3
likely benign
NM_005956.4(MTHFD1):c.1420-19C>A single nucleotide variant not provided [RCV002200528] Chr14:64431768 [GRCh38]
Chr14:64898486 [GRCh37]
Chr14:14q23.3
likely benign
NM_005956.4(MTHFD1):c.1896G>A (p.Val632=) single nucleotide variant not provided [RCV002203801] Chr14:64442065 [GRCh38]
Chr14:64908783 [GRCh37]
Chr14:14q23.3
likely benign
NM_005956.4(MTHFD1):c.41+14_41+16del deletion not provided [RCV002135695] Chr14:64388482..64388484 [GRCh38]
Chr14:64855200..64855202 [GRCh37]
Chr14:14q23.3
likely benign
NM_005956.4(MTHFD1):c.856-4T>C single nucleotide variant not provided [RCV002198271] Chr14:64425726 [GRCh38]
Chr14:64892444 [GRCh37]
Chr14:14q23.3
likely benign
NM_005956.4(MTHFD1):c.1128-9G>A single nucleotide variant not provided [RCV002141078] Chr14:64427328 [GRCh38]
Chr14:64894046 [GRCh37]
Chr14:14q23.3
likely benign
NM_005956.4(MTHFD1):c.187-14T>C single nucleotide variant not provided [RCV002162525] Chr14:64412458 [GRCh38]
Chr14:64879176 [GRCh37]
Chr14:14q23.3
likely benign
NM_005956.4(MTHFD1):c.615+20G>A single nucleotide variant not provided [RCV002159184] Chr14:64418044 [GRCh38]
Chr14:64884762 [GRCh37]
Chr14:14q23.3
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7432 AgrOrtholog
COSMIC MTHFD1 COSMIC
Ensembl Genes ENSG00000100714 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000438588 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000450560 UniProtKB/TrEMBL
  ENSP00000476468 UniProtKB/TrEMBL
  ENSP00000477199 UniProtKB/TrEMBL
  ENSP00000477359 UniProtKB/TrEMBL
  ENSP00000477501 UniProtKB/TrEMBL
  ENSP00000498336 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000498511 UniProtKB/Swiss-Prot
  ENSP00000498649 UniProtKB/TrEMBL
  ENSP00000499176 UniProtKB/TrEMBL
Ensembl Transcript ENST00000545908 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000554739 UniProtKB/TrEMBL
  ENST00000554768 UniProtKB/TrEMBL
  ENST00000555709 UniProtKB/TrEMBL
  ENST00000557370 UniProtKB/TrEMBL
  ENST00000557539 UniProtKB/TrEMBL
  ENST00000651537 UniProtKB/Swiss-Prot
  ENST00000652179 UniProtKB/TrEMBL
  ENST00000652337 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000652509 UniProtKB/TrEMBL
Gene3D-CATH 3.40.50.300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000100714 GTEx
HGNC ID HGNC:7432 ENTREZGENE
Human Proteome Map MTHFD1 Human Proteome Map
InterPro Formate_THF_ligase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Formate_THF_ligase_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NAD(P)-bd_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  THF_DH/CycHdrlase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  THF_DH/CycHdrlase_cat_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  THF_DH/CycHdrlase_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  THF_DH/CycHdrlase_NAD-bd_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4522 UniProtKB/Swiss-Prot
NCBI Gene 4522 ENTREZGENE
OMIM 172460 OMIM
  601634 OMIM
  617780 OMIM
Pfam FTHFS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  THF_DHG_CYH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  THF_DHG_CYH_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB MTHFD1 RGD, PharmGKB
PRINTS THFDHDRGNASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE FTHFS_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FTHFS_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  THF_DHG_CYH_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  THF_DHG_CYH_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF51735 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A494C1T2_HUMAN UniProtKB/TrEMBL
  A0A8C8UXK2_HUMAN UniProtKB/TrEMBL
  C1TC_HUMAN UniProtKB/Swiss-Prot
  F5H2F4_HUMAN UniProtKB/TrEMBL
  P11586 ENTREZGENE
  V9GY75_HUMAN UniProtKB/TrEMBL
  V9GYY3_HUMAN UniProtKB/TrEMBL
  V9GZ32_HUMAN UniProtKB/TrEMBL
  V9GZ78_HUMAN UniProtKB/TrEMBL
UniProt Secondary A0A024R652 UniProtKB/Swiss-Prot
  A0A384N5Y3 UniProtKB/Swiss-Prot
  B2R5Y2 UniProtKB/Swiss-Prot
  G3V2B8 UniProtKB/Swiss-Prot
  Q86VC9 UniProtKB/Swiss-Prot
  Q9BVP5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-05-10 MTHFD1  methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1  MTHFD1  methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase  Symbol and/or name change 5135510 APPROVED