Transcript #00000162

Transcript name methylenetetrahydrofolate reductase (NAD(P)H)
Gene name MTHFR (methylenetetrahydrofolate reductase (NAD(P)H))
Chromosome 1
Transcript - NCBI ID NM_005957.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_005948.3
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

124 entries on 2 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-/. - c.-41728T>C r.(?) p.(=)
-/. - c.-41717G>A r.(?) p.(=)
-/. - c.-41672C>T r.(?) p.(=)
-/. - c.-41671G>A r.(?) p.(=)
-/. - c.-41554C>T r.(?) p.(=)
-/. - c.-41518C>T r.(?) p.(=)
-/. - c.-41499A>C r.(?) p.(=)
-?/. - c.-41499A>C r.(?) p.(=)
-/. - c.-41491G>A r.(?) p.(=)
?/. - c.-41480_-41479del r.(?) p.(=)
-?/. - c.-41397G>A r.(?) p.(=)
?/. - c.-41351G>C r.(?) p.(=)
?/. - c.-41342G>A r.(?) p.(=)
-?/. - c.-41338G>A r.(?) p.(=)
+?/. - c.-41301T>C r.(?) p.(=)
-/. - c.-41248C>T r.(?) p.(=)
?/. - c.-41241C>T r.(?) p.(=)
-/. - c.-40137T>C r.(?) p.(=)
?/. - c.107G>T r.(?) p.(Gly36Val)
-/. - c.117C>T r.(?) p.(Pro39=)
-/. - c.117C>T r.(?) p.(Pro39=)
-/. - c.117C>T r.(?) p.(Pro39=)
+/. - c.136C>T r.(?) p.(Arg46Trp)
?/. - c.236+3A>G r.spl? p.?
-?/. - c.276C>T r.(?) p.(Asp92=)
?/. - c.337G>T r.(?) p.(Ala113Ser)
-?/. - c.376C>T r.(?) p.(Leu126=)
-?/. - c.401G>T r.(?) p.(Arg134Leu)
+/. - c.459C>G r.(?) p.(Ile153Met)
-/. - c.475+15C>T r.(=) p.(=)
-?/. - c.476-76G>A r.(=) p.(=)
-?/. - c.476-56A>G r.(=) p.(=)
-?/. - c.534G>A r.(?) p.(Leu178=)
?/. - c.653T>C r.(?) p.(Val218Ala)
-?/. - c.654G>A r.(?) p.(Val218=)
./. - c.665C>T r.(?) p.(Ala222Val)
-/. - c.665C>T r.(?) p.(Ala222Val)
+/. - c.665C>T r.(?) p.(Ala222Val)
-/. - c.665C>T r.(?) p.(Ala222Val)
-/. - c.665C>T r.(?) p.(Ala222Val)
-?/. - c.673A>G r.(?) p.(Ile225Val)
-?/. - c.708C>T r.(?) p.(Phe236=)
?/. - c.718G>A r.(?) p.(Val240Met)
-?/. - c.732C>T r.(?) p.(Thr244=)
-?/. - c.733G>A r.(?) p.(Asp245Asn)
-?/. - c.780+3G>A r.spl? p.?
?/. - c.797G>A r.(?) p.(Arg266Gln)
-?/. - c.870C>T r.(?) p.(Asn290=)
-?/. - c.870C>T r.(?) p.(Asn290=)
?/. - c.1004G>A r.(?) p.(Arg335His)
+?/. - c.1006C>A r.(?) p.(Leu336Met)
-?/. - c.1029C>G r.(?) p.(Pro343=)
-/. - c.1056C>T r.(?) p.(Ser352=)
-/. - c.1056C>T r.(?) p.(Ser352=)
-/. - c.1056C>T r.(?) p.(Ser352=)
+/. - c.1072C>T r.(?) p.(Arg358Ter)
+/. - c.1078G>T r.(?) p.(Glu360Ter)
?/. - c.1162C>T r.(?) p.(Arg388Cys)
?/. - c.1166+5G>C r.spl? p.?
-/. - c.1166+31C>T r.(=) p.(=)
-/. - c.1167-76G>T r.(=) p.(=)
-?/. - c.1264G>A r.(?) p.(Gly422Arg)
-/. - c.1286A>C r.(?) p.(Glu429Ala)
-/. - c.1286A>C r.(?) p.(Glu429Ala)
-/. - c.1286A>C r.(?) p.(Glu429Ala)
-/. - c.1305C>T r.(?) p.(Phe435=)
-/. - c.1305C>T r.(?) p.(Phe435=)
-/. - c.1305C>T r.(?) p.(Phe435=)
-/. - c.1305C>T r.(?) p.(Phe435=)
?/. - c.1347+5G>A r.spl? p.?
-?/. - c.1347+20G>A r.(=) p.(=)
?/. - c.1408G>C r.(?) p.(Glu470Gln)
?/. - c.1408_1409delinsCT r.(?) p.(Glu470Leu)
?/. - c.1409A>T r.(?) p.(Glu470Val)
-?/. - c.1409A>T r.(?) p.(Glu470Val)
?/. - c.1448A>G r.(?) p.(Asn483Ser)
-/. - c.1476G>A r.(?) p.(Pro492=)
-/. - c.1476G>A r.(?) p.(Pro492=)
-/. - c.1476G>A r.(?) p.(Pro492=)
-?/. - c.1507A>C r.(?) p.(Ser503Arg)
-?/. - c.1521C>T r.(?) p.(Val507=)
-/. - c.1531-80G>A r.(=) p.(=)
?/. - c.1555C>T r.(?) p.(Arg519Cys)
?/. - c.1555C>T r.(?) p.(Arg519Cys)
?/. - c.1555C>T r.(?) p.(Arg519Cys)
-?/. - c.1719C>T r.(?) p.(Thr573=)
-?/. - c.1752+45G>A r.(=) p.(=)
?/. - c.1760C>A r.(?) p.(Ala587Asp)
-?/. - c.1761C>T r.(?) p.(Ala587=)
-?/. - c.1761C>T r.(?) p.(Ala587=)
?/. - c.1780C>T r.(?) p.(Arg594Trp)
-/. - c.1781G>A r.(?) p.(Arg594Gln)
?/. - c.1781G>A r.(?) p.(Arg594Gln)
?/. - c.1781G>A r.(?) p.(Arg594Gln)
./. - c.1781G>A r.(?) p.(Arg594Gln)
?/. - c.1781G>A r.(?) p.(Arg594Gln)
?/. - c.1781G>A r.(?) p.(Arg594Gln)
?/. - c.1781G>A r.(?) p.(Arg594Gln)
?/. - c.1781G>A r.(?) p.(Arg594Gln)
?/. - c.1781G>A r.(?) p.(Arg594Gln)
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