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

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

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-/. - c.-41728T>C benign r.(?) p.(=)
-/. - c.-41717G>A benign r.(?) p.(=)
-/. - c.-41672C>T benign r.(?) p.(=)
-/. - c.-41671G>A benign r.(?) p.(=)
-/. - c.-41518C>T benign r.(?) p.(=)
-/. - c.-41499A>C benign r.(?) p.(=)
-?/. - c.-41499A>C likely benign r.(?) p.(=)
-?/. - c.-41499A>C likely benign r.(?) p.(=)
-/. - c.-41491G>A benign r.(?) p.(=)
?/. - c.-41480_-41479del VUS r.(?) p.(=)
?/. - c.-41342G>A VUS r.(?) p.(=)
-/. - c.-41248C>T benign r.(?) p.(=)
-/. - c.-40137T>C benign r.(?) p.(=)
-/. - c.117C>T benign r.(?) p.(=)
-/. - c.117C>T benign r.(?) p.(=)
-/. - c.117C>T benign r.(?) p.(=)
?/. - c.236+3A>G VUS r.spl? p.?
?/. - c.236+3A>G VUS r.spl? p.?
-?/. - c.276C>T likely benign r.(?) p.(=)
?/. - c.337G>T VUS r.(?) p.(Ala113Ser)
-?/. - c.376C>T likely benign r.(?) p.(=)
-/. - c.475+15C>T benign r.(=) p.(=)
-?/. - c.476-76G>A likely benign r.(=) p.(=)
-?/. - c.476-56A>G likely benign r.(=) p.(=)
-?/. - c.654G>A likely benign r.(?) p.(=)
./. - c.665C>T - r.(?) p.(Ala222Val)
-/. - c.665C>T benign r.(?) p.(Ala222Val)
+/. - c.665C>T benign (*) r.(?) p.(Ala222Val)
-/. - c.665C>T benign r.(?) p.(Ala222Val)
-/. - c.665C>T benign r.(?) p.(Ala222Val)
-?/. - c.673A>G likely benign r.(?) p.(Ile225Val)
-?/. - c.732C>T likely benign r.(?) p.(=)
-?/. - c.733G>A likely benign r.(?) p.(Asp245Asn)
?/. - c.797G>A VUS r.(?) p.(Arg266Gln)
-?/. - c.870C>T likely benign r.(?) p.(=)
-?/. - c.870C>T likely benign r.(?) p.(=)
+?/. - c.1006C>A likely pathogenic r.(?) p.(Leu336Met)
-?/. - c.1029C>G likely benign r.(?) p.(=)
-/. - c.1056C>T benign r.(?) p.(=)
-/. - c.1056C>T benign r.(?) p.(=)
-/. - c.1056C>T benign r.(?) p.(=)
+/. - c.1072C>T pathogenic r.(?) p.(Arg358*)
+/. - c.1078G>T pathogenic r.(?) p.(Glu360*)
?/. - c.1162C>T VUS r.(?) p.(Arg388Cys)
?/. - c.1166+5G>C VUS r.spl? p.?
-/. - c.1166+31C>T benign r.(=) p.(=)
-/. - c.1167-76G>T benign r.(=) p.(=)
-?/. - c.1264G>A likely benign r.(?) p.(Gly422Arg)
-/. - c.1286A>C benign r.(?) p.(Glu429Ala)
-/. - c.1286A>C benign r.(?) p.(Glu429Ala)
-/. - c.1286A>C benign r.(?) p.(Glu429Ala)
-/. - c.1305C>T benign r.(?) p.(=)
-/. - c.1305C>T benign r.(?) p.(=)
-/. - c.1305C>T benign r.(?) p.(=)
-/. - c.1305C>T benign r.(?) p.(=)
-?/. - c.1347+20G>A likely benign r.(=) p.(=)
?/. - c.1408G>C VUS r.(?) p.(Glu470Gln)
-?/. - c.1408G>C likely benign r.(?) p.(Glu470Gln)
?/. - c.1408_1409delinsCT VUS r.(?) p.(Glu470Leu)
?/. - c.1409A>T VUS r.(?) p.(Glu470Val)
-?/. - c.1409A>T likely benign r.(?) p.(Glu470Val)
-?/. - c.1409A>T likely benign r.(?) p.(Glu470Val)
?/. - c.1448A>G VUS r.(?) p.(Asn483Ser)
-/. - c.1476G>A benign r.(?) p.(=)
-/. - c.1476G>A benign r.(?) p.(=)
-/. - c.1476G>A benign r.(?) p.(=)
-?/. - c.1507A>C likely benign r.(?) p.(Ser503Arg)
-?/. - c.1521C>T likely benign r.(?) p.(=)
-/. - c.1531-80G>A benign r.(=) p.(=)
?/. - c.1555C>T VUS r.(?) p.(Arg519Cys)
?/. - c.1555C>T VUS r.(?) p.(Arg519Cys)
?/. - c.1555C>T VUS r.(?) p.(Arg519Cys)
-?/. - c.1752+45G>A likely benign r.(=) p.(=)
-?/. - c.1761C>T likely benign r.(?) p.(=)
-?/. - c.1761C>T likely benign r.(?) p.(=)
?/. - c.1780C>T VUS 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)
?/. - c.1781G>A - r.(?) p.(Arg594Gln)
?/. - c.1781G>A - r.(?) p.(Arg594Gln)
?/. - c.1781G>A - r.(?) p.(Arg594Gln)
-/. - c.1781G>A benign r.(?) p.(Arg594Gln)
-?/. - c.1940C>T likely benign r.(?) p.(Thr647Ile)
?/. - c.1952G>A VUS r.(?) p.(Arg651Lys)
-/. - c.1958C>T benign r.(?) p.(Thr653Met)
-/. - c.1958C>T benign r.(?) p.(Thr653Met)
?/. - c.*2809T>C VUS r.(=) p.(=)
?/. - c.*3201G>C VUS r.(=) p.(=)
?/. - c.*14046C>G VUS r.(=) p.(=)
-/. - c.*14184C>A benign r.(=) p.(=)
-?/. - c.*19081G>A likely benign r.(=) p.(=)
?/. - c.*22410G>A VUS r.(=) p.(=)
?/. - c.*23592T>C VUS r.(=) p.(=)
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