Annotation Detail
Information
- Associated Genes
- MTHFR
- Associated Variants
-
MTHFR c.1290-2delA
(
ENST00000423400.7,
ENST00000641820.1,
ENST00000376583.7,
ENST00000376585.6,
ENST00000641407.1,
ENST00000376592.6,
ENST00000376590.9 )
MTHFR p.Ile267del (p.I267del) ( ENST00000641820.1, ENST00000423400.7, ENST00000376583.7, ENST00000376585.6, ENST00000376592.6, ENST00000641407.1, ENST00000376590.9 )
MTHFR p.Lys256del (p.K256del) ( ENST00000376585.6, ENST00000376583.7, ENST00000423400.7, ENST00000641820.1, ENST00000376590.9, ENST00000641407.1, ENST00000376592.6 )
MTHFR c.111-28_111-27delCT ( ENST00000376592.6, ENST00000641407.1, ENST00000376590.9, ENST00000423400.7, ENST00000376583.7, ENST00000376585.6 )
MTHFR c.1290-2delA ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1, ENST00000641820.1 )
MTHFR p.Ile267del (p.I267del) ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1, ENST00000641820.1 )
MTHFR p.Lys256del (p.K256del) ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1, ENST00000641820.1 )
MTHFR c.111-28_111-27delCT ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1 )
MTHFR p.Tyr640_Glu641delinsTerTer (p.Y640_E641delins**) ( ENST00000641407.1, ENST00000376592.6, ENST00000376590.9, ENST00000376583.7, ENST00000641820.1, ENST00000423400.7, ENST00000376585.6 )
MTHFR p.Tyr640_Glu641delinsTerTer (p.Y640_E641delins**) ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1, ENST00000641820.1 )
MTHFR p.Ter698Argext*? (p.*698Rext*?) ( ENST00000376592.6, ENST00000641407.1, ENST00000376590.9, ENST00000376583.7, ENST00000423400.7, ENST00000641820.1, ENST00000376585.6 )
MTHFR p.Leu669Pro (p.L669P) ( ENST00000376583.7, ENST00000423400.7, ENST00000641820.1, ENST00000376585.6, ENST00000641407.1, ENST00000376592.6, ENST00000376590.9 )
MTHFR p.Ser644Cys (p.S644C) ( ENST00000376590.9, ENST00000376592.6, ENST00000641407.1, ENST00000376585.6, ENST00000641820.1, ENST00000423400.7, ENST00000376583.7 )
MTHFR p.Leu639Pro (p.L639P) ( ENST00000376585.6, ENST00000641820.1, ENST00000423400.7, ENST00000376583.7, ENST00000376590.9, ENST00000641407.1, ENST00000376592.6 )
MTHFR c.1876-18G>A ( ENST00000376585.6, ENST00000641820.1, ENST00000423400.7, ENST00000376583.7, ENST00000376590.9, ENST00000376592.6, ENST00000641407.1 )
MTHFR c.1875+1G>T ( ENST00000376590.9, ENST00000641407.1, ENST00000376592.6, ENST00000376585.6, ENST00000376583.7, ENST00000423400.7, ENST00000641820.1 )
MTHFR p.Met622Ile (p.M622I) ( ENST00000376592.6, ENST00000641407.1, ENST00000376590.9, ENST00000641820.1, ENST00000423400.7, ENST00000376583.7, ENST00000376585.6 )
MTHFR p.Val616Gly (p.V616G) ( ENST00000423400.7, ENST00000641820.1, ENST00000376583.7, ENST00000376585.6, ENST00000641407.1, ENST00000376592.6, ENST00000376590.9 )
MTHFR p.Trp602Ter (p.W602*) ( ENST00000376585.6, ENST00000376583.7, ENST00000423400.7, ENST00000641820.1, ENST00000376590.9, ENST00000376592.6, ENST00000641407.1 )
MTHFR c.1755+2T>G ( ENST00000376583.7, ENST00000641820.1, ENST00000423400.7, ENST00000376585.6, ENST00000376592.6, ENST00000641407.1, ENST00000376590.9 )
MTHFR c.1755+2T>C ( ENST00000376590.9, ENST00000641407.1, ENST00000376592.6, ENST00000376585.6, ENST00000376583.7, ENST00000641820.1, ENST00000423400.7 )
MTHFR p.Val577Phe (p.V577F) ( ENST00000376592.6, ENST00000641407.1, ENST00000376590.9, ENST00000376583.7, ENST00000423400.7, ENST00000641820.1, ENST00000376585.6 )
MTHFR p.Val577Ile (p.V577I) ( ENST00000376592.6, ENST00000641407.1, ENST00000376590.9, ENST00000376583.7, ENST00000423400.7, ENST00000641820.1, ENST00000376585.6 )
MTHFR c.1653+2T>C ( ENST00000376585.6, ENST00000423400.7, ENST00000641820.1, ENST00000376583.7, ENST00000376590.9, ENST00000641407.1, ENST00000376592.6 )
MTHFR p.Tyr547Asp (p.Y547D) ( ENST00000376585.6, ENST00000376583.7, ENST00000423400.7, ENST00000641820.1, ENST00000376590.9, ENST00000641407.1, ENST00000376592.6 )
MTHFR p.Ser481= (p.S481=) ( ENST00000376585.6, ENST00000376583.7, ENST00000423400.7, ENST00000641820.1, ENST00000376590.9, ENST00000376592.6, ENST00000641407.1 )
MTHFR p.Trp462Leu (p.W462L) ( ENST00000376583.7, ENST00000423400.7, ENST00000641820.1, ENST00000376585.6, ENST00000376592.6, ENST00000641407.1, ENST00000376590.9 )
MTHFR p.Trp462Ser (p.W462S) ( ENST00000376592.6, ENST00000641407.1, ENST00000376590.9, ENST00000641820.1, ENST00000423400.7, ENST00000376583.7, ENST00000376585.6 )
MTHFR p.Lys413Glu (p.K413E) ( ENST00000641407.1, ENST00000376592.6, ENST00000376590.9, ENST00000376583.7, ENST00000423400.7, ENST00000641820.1, ENST00000376585.6 )
MTHFR p.Arg404His (p.R404H) ( ENST00000376585.6, ENST00000376583.7, ENST00000641820.1, ENST00000423400.7, ENST00000376590.9, ENST00000376592.6, ENST00000641407.1 )
MTHFR p.His395Tyr (p.H395Y) ( ENST00000641820.1, ENST00000423400.7, ENST00000376583.7, ENST00000376585.6, ENST00000376592.6, ENST00000641407.1, ENST00000376590.9 )
MTHFR p.Pro389Ser (p.P389S) ( ENST00000376592.6, ENST00000641407.1, ENST00000376590.9, ENST00000423400.7, ENST00000641820.1, ENST00000376583.7, ENST00000376585.6 )
MTHFR p.Arg376His (p.R376H) ( ENST00000376592.6, ENST00000641407.1, ENST00000376590.9, ENST00000423400.7, ENST00000641820.1, ENST00000376583.7, ENST00000376585.6 )
MTHFR c.903+1G>T ( ENST00000376585.6, ENST00000376583.7, ENST00000423400.7, ENST00000641820.1, ENST00000376590.9, ENST00000641407.1, ENST00000376592.6 )
MTHFR p.Phe298Val (p.F298V) ( ENST00000376592.6, ENST00000641407.1, ENST00000376590.9, ENST00000376583.7, ENST00000423400.7, ENST00000641820.1, ENST00000376585.6 )
MTHFR p.Ile297Asn (p.I297N) ( ENST00000376590.9, ENST00000641407.1, ENST00000376592.6, ENST00000376585.6, ENST00000376583.7, ENST00000423400.7, ENST00000641820.1 )
MTHFR p.Gly296Val (p.G296V) ( ENST00000376583.7, ENST00000641820.1, ENST00000423400.7, ENST00000376585.6, ENST00000376592.6, ENST00000641407.1, ENST00000376590.9 )
MTHFR p.Pro295Ser (p.P295S) ( ENST00000376585.6, ENST00000376583.7, ENST00000641820.1, ENST00000423400.7, ENST00000376590.9, ENST00000376592.6, ENST00000641407.1 )
MTHFR p.Ile266Val (p.I266V) ( ENST00000376592.6, ENST00000641407.1, ENST00000376590.9, ENST00000423400.7, ENST00000641820.1, ENST00000376583.7, ENST00000376585.6 )
MTHFR p.Ile266Leu (p.I266L) ( ENST00000376590.9, ENST00000376592.6, ENST00000641407.1, ENST00000376585.6, ENST00000423400.7, ENST00000641820.1, ENST00000376583.7 )
MTHFR p.Gly237Asp (p.G237D) ( ENST00000376585.6, ENST00000376583.7, ENST00000423400.7, ENST00000641820.1, ENST00000376590.9, ENST00000376592.6, ENST00000641407.1 )
MTHFR p.Arg224Gln (p.R224Q) ( ENST00000641407.1, ENST00000376592.6, ENST00000376590.9, ENST00000423400.7, ENST00000376583.7, ENST00000376585.6 )
MTHFR p.Gln188Pro (p.Q188P) ( ENST00000423400.7, ENST00000376583.7, ENST00000376585.6, ENST00000376592.6, ENST00000641407.1, ENST00000376590.9 )
MTHFR p.Cys171Arg (p.C171R) ( ENST00000376585.6, ENST00000423400.7, ENST00000376583.7, ENST00000376590.9, ENST00000641407.1, ENST00000376592.6 )
MTHFR p.His168Tyr (p.H168Y) ( ENST00000641407.1, ENST00000376592.6, ENST00000376590.9, ENST00000376583.7, ENST00000423400.7, ENST00000376585.6 )
MTHFR p.Ala154Ser (p.A154S) ( ENST00000376583.7, ENST00000423400.7, ENST00000376585.6, ENST00000376592.6, ENST00000641407.1, ENST00000376590.9 )
MTHFR p.Ala154Thr (p.A154T) ( ENST00000641407.1, ENST00000376592.6, ENST00000376590.9, ENST00000423400.7, ENST00000376583.7, ENST00000376585.6 )
MTHFR p.Arg123Trp (p.R123W) ( ENST00000376585.6, ENST00000376583.7, ENST00000423400.7, ENST00000376590.9, ENST00000376592.6, ENST00000641407.1 )
MTHFR p.Arg109Ter (p.R109*) ( ENST00000641407.1, ENST00000376592.6, ENST00000376590.9, ENST00000423400.7, ENST00000376583.7, ENST00000376585.6 )
MTHFR p.Arg109Gly (p.R109G) ( ENST00000376583.7, ENST00000423400.7, ENST00000376585.6, ENST00000376592.6, ENST00000641407.1, ENST00000376590.9 )
MTHFR p.Trp100Ser (p.W100S) ( ENST00000376585.6, ENST00000376583.7, ENST00000423400.7, ENST00000376590.9, ENST00000376592.6, ENST00000641407.1 )
MTHFR p.Arg87Gln (p.R87Q) ( ENST00000376585.6, ENST00000376583.7, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1 )
MTHFR p.Arg87Trp (p.R87W) ( ENST00000376592.6, ENST00000641407.1, ENST00000376590.9, ENST00000376583.7, ENST00000423400.7, ENST00000376585.6 )
MTHFR p.Ter698Argext*? (p.*698Rext*?) ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1, ENST00000641820.1 )
MTHFR p.Leu669Pro (p.L669P) ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1, ENST00000641820.1 )
MTHFR p.Ser644Cys (p.S644C) ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1, ENST00000641820.1 )
MTHFR p.Leu639Pro (p.L639P) ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1, ENST00000641820.1 )
MTHFR c.1876-18G>A ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1, ENST00000641820.1 )
MTHFR c.1875+1G>T ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1, ENST00000641820.1 )
MTHFR p.Met622Ile (p.M622I) ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1, ENST00000641820.1 )
MTHFR p.Val616Gly (p.V616G) ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1, ENST00000641820.1 )
MTHFR p.Trp602Ter (p.W602*) ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1, ENST00000641820.1 )
MTHFR c.1755+2T>G ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1, ENST00000641820.1 )
MTHFR c.1755+2T>C ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1, ENST00000641820.1 )
MTHFR p.Val577Phe (p.V577F) ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1, ENST00000641820.1 )
MTHFR p.Val577Ile (p.V577I) ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1, ENST00000641820.1 )
MTHFR c.1653+2T>C ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1, ENST00000641820.1 )
MTHFR p.Tyr547Asp (p.Y547D) ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1, ENST00000641820.1 )
MTHFR p.Ser481= (p.S481=) ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1, ENST00000641820.1 )
MTHFR p.Trp462Leu (p.W462L) ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1, ENST00000641820.1 )
MTHFR p.Trp462Ser (p.W462S) ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1, ENST00000641820.1 )
MTHFR p.Lys413Glu (p.K413E) ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1, ENST00000641820.1 )
MTHFR p.Arg404His (p.R404H) ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1, ENST00000641820.1 )
MTHFR p.His395Tyr (p.H395Y) ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1, ENST00000641820.1 )
MTHFR p.Pro389Ser (p.P389S) ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1, ENST00000641820.1 )
MTHFR p.Arg376His (p.R376H) ( ENST00000641407.1, ENST00000641820.1, ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7 )
MTHFR c.903+1G>T ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1, ENST00000641820.1 )
MTHFR p.Phe298Val (p.F298V) ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1, ENST00000641820.1 )
MTHFR p.Ile297Asn (p.I297N) ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1, ENST00000641820.1 )
MTHFR p.Gly296Val (p.G296V) ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1, ENST00000641820.1 )
MTHFR p.Pro295Ser (p.P295S) ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1, ENST00000641820.1 )
MTHFR p.Ile266Val (p.I266V) ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1, ENST00000641820.1 )
MTHFR p.Ile266Leu (p.I266L) ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1, ENST00000641820.1 )
MTHFR p.Gly237Asp (p.G237D) ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1, ENST00000641820.1 )
MTHFR p.Arg224Gln (p.R224Q) ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1 )
MTHFR p.Gln188Pro (p.Q188P) ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1 )
MTHFR p.Cys171Arg (p.C171R) ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1 )
MTHFR p.His168Tyr (p.H168Y) ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1 )
MTHFR p.Ala154Ser (p.A154S) ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1 )
MTHFR p.Ala154Thr (p.A154T) ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1 )
MTHFR p.Arg123Trp (p.R123W) ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1 )
MTHFR p.Arg109Ter (p.R109*) ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1 )
MTHFR p.Arg109Gly (p.R109G) ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1 )
MTHFR p.Trp100Ser (p.W100S) ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1 )
MTHFR p.Arg87Gln (p.R87Q) ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1 )
MTHFR p.Arg87Trp (p.R87W) ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1 )
MTHFR p.Pro142_Gly143insProLeuHisArgArgAspLeuAlaProSerArgTerPro (p.P142_G143insPLHRRDLAPSR*P)
MTHFR p.Pro142_Gly143insProLeuHisArgArgAspLeuAlaProSerArgTerPro (p.P142_G143insPLHRRDLAPSR*P) - Associated Disease
- HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.362171534976642
- Year of publication
- NA
Drugs