All variants in the MTHFR gene

Information The variants shown are described using the NM_005957.4 transcript reference sequence.

17 entries on 1 page. Showing entries 1 - 17.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     

DNA change (genomic) (hg38)     

Published as     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Variant remarks     

Owner     
+/. - c.665C>G - r.(?) p.(Ala222Gly) - benign g.11796321G>C - Ket Wei Loo et al.(2012) MTHFR_000003 rs1801133 - - Nur Aisyah Athirah
+/. - c.665C>G - r.(?) p.(Ala222Gly) - benign g.11796321G>C - Loo Keat Wei et al.(2015) MTHFR_000003 rs1801133 - - Nur Aisyah Athirah
+/. - c.665C>T - r.(?) p.(Ala222Val) - drug response g.11796321G>A - Siti Norsyuhada Roffeei et al.(2014) MTHFR_000001 rs1801133 - - Nur Aisyah Athirah
?/. 4 c.665C>T - r.(?) p.(Ala222Val) - ClinVar g.11796321G>A - MEH Mejia et al. (2011)dbSNP MTHFR_000001 rs1801133 - - MyHVP
?/. - c.677T>C 677C>T r.(?) p.(Ile226Thr) - ClinVar g.11796309A>G 677C>T S C Choo et al. (2011)dbSNP MTHFR_000002 rs193922686 5/13 - Nuur Athirah Binti Mohd Daud
-?/. - c.677T>C - r.(?) p.(Ile226Thr) - - g.11796309A>G - Siaw C Liew et al.(2012) MTHFR_000002 rs1217691063 57/200 - Nur Aisyah Athirah
-?/. - c.677T>C - r.(?) p.(Ile226Thr) - - g.11796309A>G - Siaw C Liew et al.(2012) MTHFR_000002 rs1217691063 30/200 - Nur Aisyah Athirah
+/. - c.677T>C - r.(?) p.(Ile226Thr) - - g.11796309A>G - Siaw C Liew et al.(2012) MTHFR_000002 rs1217691063 72/200 - Nur Aisyah Athirah
?/. - c.677T>C 677C>T r.(?) p.(Ile226Thr) - ClinVar g.11796309A>G 677C>T S C Choo et al. (2011)dbSNP MTHFR_000002 rs193922686 8/13 - Nuur Athirah Binti Mohd Daud
?/. - c.677T>C 677C>T r.(?) p.(Ile226Thr) - ClinVar g.11796309A>G 677C>T S C Choo et al. (2011)dbSNP MTHFR_000002 rs193922686 5/13 - Nuur Athirah Binti Mohd Daud
?/. - c.677T>C 677C>T r.(?) p.(Ile226Thr) - ClinVar g.11796309A>G 677C>T S C Choo et al. (2011)dbSNP MTHFR_000002 rs193922686 13/18 - Nuur Athirah Binti Mohd Daud
?/. - c.677T>C 677C>T r.(?) p.(Ile226Thr) - ClinVar g.11796309A>G 677C>T S C Choo et al. (2011)dbSNP MTHFR_000002 rs193922686 8/12 - Nuur Athirah Binti Mohd Daud
?/. - c.677T>C 677C>T r.(?) p.(Ile226Thr) - ClinVar g.11796309A>G 677C>T S C Choo et al. (2011)dbSNP MTHFR_000002 rs193922686 4/12 - Nuur Athirah Binti Mohd Daud
?/. - c.677T>C 677C>T r.(?) p.(Ile226Thr) - ClinVar g.11796309A>G 677C>T K H Ling et al. (2003)dbSNP MTHFR_000002 rs193922686 5/21 - Nuur Athirah Binti Mohd Daud
?/. - c.677T>C 677C>T r.(?) p.(Ile226Thr) - ClinVar g.11796309A>G 677C>T K H Ling et al. (2003)dbSNP MTHFR_000002 rs193922686 2/8 - Nuur Athirah Binti Mohd Daud
+/. - c.677T>C 677C>T r.(?) p.(Ile226Thr) - - g.11796309A>G 677C>T K H Ling et al. (2003) MTHFR_000002 rs193922686 3/12 - Nuur Athirah Binti Mohd Daud
+/. - c.1298A>C - r.(?) p.(Glu433Ala) - benign g.11794407T>G - Loo Keat Wei et al.(2015) MTHFR_000004 rs1801131 - - Nur Aisyah Athirah
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