Transcript #00014046

Transcript name 5-methyltetrahydrofolate-homocysteine methyltransferase
Gene name MTR (5-methyltetrahydrofolate-homocysteine methyltransferase)
Chromosome 1
Transcript - NCBI ID NM_000254.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_000245.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

75 entries on 1 page. Showing entries 1 - 75.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-?/. - c.-6G>C likely benign r.(?) p.(=)
?/. - c.13C>A VUS r.(?) p.(Leu5Ile)
-?/. - c.155G>A likely benign r.(?) p.(Arg52Gln)
-?/. - c.155G>A likely benign r.(?) p.(Arg52Gln)
./. - c.155G>A - r.(?) p.(Arg52Gln)
?/. - c.317C>T VUS r.(?) p.(Ala106Val)
-/. - c.340-6C>T benign r.(=) p.(=)
-?/. - c.340-6C>T likely benign r.(=) p.(=)
?/. - c.340-2A>G VUS r.spl? p.?
-/. - c.502+10dup benign r.(=) p.(=)
?/. - c.621T>G VUS r.(?) p.(Phe207Leu)
-/. - c.651T>C benign r.(?) p.(=)
-/. - c.858C>T benign r.(?) p.(=)
-?/. - c.858C>T likely benign r.(?) p.(=)
-?/. - c.927+10C>A likely benign r.(=) p.(=)
-/. - c.940G>A benign r.(?) p.(Asp314Asn)
-?/. - c.940G>A likely benign r.(?) p.(Asp314Asn)
-/. - c.1033G>A benign r.(?) p.(Val345Ile)
-/. - c.1033G>A benign r.(?) p.(Val345Ile)
-?/. - c.1076-8C>T likely benign r.(=) p.(=)
?/. - c.1228G>C VUS r.(?) p.(Ala410Pro)
?/. - c.1288A>G VUS r.(?) p.(Arg430Gly)
+?/. - c.1310C>A likely pathogenic r.(?) p.(Ser437Tyr)
-/. - c.1485G>A benign r.(?) p.(Met495Ile)
+/. - c.1753C>T pathogenic r.(?) p.(Arg585*)
-?/. - c.1780A>G likely benign r.(?) p.(Met594Val)
-?/. - c.2044-21_2044-12dup likely benign r.(=) p.(=)
-?/. - c.2044-11G>T likely benign r.(=) p.(=)
-?/. - c.2044-9C>G likely benign r.(=) p.(=)
-?/. - c.2044-9C>T likely benign r.(=) p.(=)
-/. - c.2044-2A>T benign r.spl? p.?
-?/. - c.2044-2_2047del likely benign r.spl? p.?
-?/. - c.2044-1G>T likely benign r.spl? p.?
-?/. - c.2044-1_2047del likely benign r.spl? p.?
?/. - c.2046C>G VUS r.(?) p.(=)
?/. - c.2047A>T VUS r.(?) p.(Ile683Phe)
+/. - c.2122del pathogenic r.(?) p.(Ile708Leufs*5)
?/. - c.2245C>T VUS r.(?) p.(Pro749Ser)
-/. - c.2474-19T>A benign r.(=) p.(=)
-/. - c.2474-18T>A benign r.(=) p.(=)
-/. - c.2474-18_2474-17del benign r.(=) p.(=)
-/. - c.2474-5_2474-4dup benign r.spl? p.?
-?/. - c.2474-4del likely benign r.spl? p.?
-/. - c.2474-4dup benign r.spl? p.?
-/. - c.2594+15T>C benign r.(=) p.(=)
-/. - c.2594+15T>C benign r.(=) p.(=)
?/. - c.2718T>G VUS r.(?) p.(Phe906Leu)
-/. - c.2756A>G benign r.(?) p.(Asp919Gly)
?/. - c.2826G>A VUS r.(?) p.(Met942Ile)
-?/. - c.2908G>A likely benign r.(?) p.(Val970Met)
-?/. - c.2909T>C likely benign r.(?) p.(Val970Ala)
?/. - c.3035A>T VUS r.(?) p.(Asp1012Val)
-/. - c.3144A>G benign r.(?) p.(=)
-/. - c.3144A>G benign r.(?) p.(=)
-?/. - c.3172C>T likely benign r.(?) p.(Pro1058Ser)
-/. - c.3213G>A benign r.(?) p.(=)
?/. - c.3463A>G VUS r.(?) p.(Ser1155Gly)
-/. - c.3474G>A benign r.(?) p.(=)
-?/. - c.3474G>A likely benign r.(?) p.(=)
-/. - c.3491G>A benign r.(?) p.(Arg1164His)
-/. - c.3492C>A benign r.(?) p.(=)
-/. - c.3492C>A benign r.(?) p.(=)
-/. - c.3576C>T benign r.(?) p.(=)
-/. - c.3576C>T benign r.(?) p.(=)
-/. - c.3599-18C>T benign r.(=) p.(=)
-/. - c.3599-11G>A benign r.(=) p.(=)
-/. - c.3665A>G benign r.(?) p.(Asn1222Ser)
-/. - c.3711+15G>T benign r.(=) p.(=)
-/. - c.3711+15G>T benign r.(=) p.(=)
-/. - c.3712-8T>C benign r.(=) p.(=)
-?/. - c.3739A>G likely benign r.(?) p.(Ile1247Val)
-?/. - c.*15_*16del likely benign r.(=) p.(=)
-?/. - c.*16del likely benign r.(?) p.(=)
-/. - c.*16del benign r.(?) p.(=)
-/. - c.*16dup benign r.(?) p.(=)
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