Transcript #00000012 (NM_005957.4, MTHFR gene)

Transcript name methylenetetrahydrofolate reductase (NAD(P)H)
Gene name MTHFR (methylenetetrahydrofolate reductase)
Chromosome 1
Transcript - NCBI ID NM_005957.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_005948.3
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

17 entries on 1 page. Showing entries 1 - 17.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
+/. - c.665C>G - r.(?) p.(Ala222Gly) - benign
+/. - c.665C>G - r.(?) p.(Ala222Gly) - benign
?/. 4 c.665C>T - r.(?) p.(Ala222Val) - ClinVar
+/. - c.665C>T - r.(?) p.(Ala222Val) - drug response
+/. - c.677T>C 677C>T r.(?) p.(Ile226Thr) - -
-?/. - c.677T>C - r.(?) p.(Ile226Thr) - -
-?/. - c.677T>C - r.(?) p.(Ile226Thr) - -
+/. - c.677T>C - r.(?) p.(Ile226Thr) - -
?/. - c.677T>C 677C>T r.(?) p.(Ile226Thr) - ClinVar
?/. - c.677T>C 677C>T r.(?) p.(Ile226Thr) - ClinVar
?/. - c.677T>C 677C>T r.(?) p.(Ile226Thr) - ClinVar
?/. - c.677T>C 677C>T r.(?) p.(Ile226Thr) - ClinVar
?/. - c.677T>C 677C>T r.(?) p.(Ile226Thr) - ClinVar
?/. - c.677T>C 677C>T r.(?) p.(Ile226Thr) - ClinVar
?/. - c.677T>C 677C>T r.(?) p.(Ile226Thr) - ClinVar
?/. - c.677T>C 677C>T r.(?) p.(Ile226Thr) - ClinVar
+/. - c.1298A>C - r.(?) p.(Glu433Ala) - benign
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