Unique variants in the MTHFR gene

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

4 entries on 1 page. Showing entries 1 - 4.
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Effect     

Reported     

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     
+/. 2 - c.665C>G - r.(?) p.(Ala222Gly) - benign g.11796321G>C - Ket Wei Loo et al.(2012), Loo Keat Wei et al.(2015) MTHFR_000003 rs1801133 - - Nur Aisyah Athirah
+/., ?/. 2 4 c.665C>T - r.(?) p.(Ala222Val) - drug response, ClinVar g.11796321G>A - MEH Mejia et al. (2011)dbSNP, Siti Norsyuhada Roffeei et al.(2014) MTHFR_000001 rs1801133 - - MyHVP, Nur Aisyah Athirah
+/., -?/., ?/. 12 - c.677T>C 677C>T r.(?) p.(Ile226Thr) - -, ClinVar, ClinVar g.11796309A>G 677C>T K H Ling et al. (2003), K H Ling et al. (2003)dbSNP, S C Choo et al. (2011)dbSNP, 2 more items MTHFR_000002 rs1217691063, rs193922686 13/18, 2/8, 3/12, 30/200, 4/12, 5/13, 5/21, 57/200, 72/200, 8/12, 8/13 - Nuur Athirah Binti Mohd Daud, Nur Aisyah Athirah
+/. 1 - 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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