Transcript #00000277

Transcript name transcript variant 1
Gene name AMT (aminomethyltransferase)
Chromosome 3
Transcript - NCBI ID NM_000481.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_000472.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

255 entries on 3 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

Class.     

RNA change     

Protein     
+/. 1 c.-66A>G - r.(=) p.(=)
+/. 1 c.-64A>G - r.(=) p.(=)
+/. 1 c.-58C>T - r.(=) p.(=)
+/. 1 c.-58C>T - r.(=) p.(=)
?/? 1 c.-55C>T - r.? p.?
+/. 1 c.-55C>T - r.(=) p.(=)
+/. 1 c.-55C>T - r.(=) p.(=)
+/. 1 c.2T>C - r.? p.?
+/. 1 c.2T>C - r.? p.?
+/. 1 c.2T>C - r.? p.?
+/. 1 c.2T>C - r.? p.?
+/. 1 c.2T>C - r.? p.?
+/. 1 c.2T>C - r.? p.?
+/. 1 c.2T>C - r.? p.?
+/. 1 c.4C>T - r.(?) p.(Gln2*)
+/. 1 c.13_16del - r.(?) p.(Ser6Trpfs*89)
+/. 1 c.14dupT - r.(?) p.(Ser6Lysfs*22)
+/. 1 c.14dupT - r.(?) p.(Ser6Lysfs*22)
+/. 1 c.15_18del - r.(?) p.(Ser6Trpfs*89)
+/. 1 c.15_18del - r.(?) p.(Ser6Trpfs*89)
+/. 1 c.15_18del - r.(?) p.(Ser6Trpfs*89)
+/. 1 c.15_18del - r.(?) p.(Ser6Trpfs*89)
+/. 1 c.15_18del - r.(?) p.(Ser6Trpfs*89)
+/. 1 c.15_18del - r.(?) p.(Ser6Trpfs*89)
+/. 1 c.16delA - r.(?) p.(Ser6Valfs*90)
+/. 1 c.16delA - r.(?) p.(Ser6Valfs*90)
+/+ 1 c.59delC - r.(59delc) p.(Pro20Argfs*76)
+/+ 1 c.61delG - r.(61delg) p.(Ala21Profs*75)
+/+ 1 c.63delC - r.(63delc) p.(Leu22Cysfs*74)
+/+ 2 c.125A>G - r.(125a>g) p.(His42Arg)
+/+ 2 c.139G>A - r.(139g>a) p.(Gly47Arg)
+/. 2 c.139G>A - r.(?) p.(Gly47Arg)
+/. 2 c.139G>A - r.(?) p.(Gly47Arg)
+/. 2 c.139G>A - r.(?) p.(Gly47Arg)
+/. 2 c.139G>A - r.(?) p.(Gly47Arg)
+/+ 2 c.139G>T - r.(139g>u) p.(Gly47Trp)
+/+ 2 c.148delG - r.(148delg) p.(Val50Trpfs*46)
+/. 2 c.178_181del - r.(?) p.(Gln60Thrfs*35)
+/. 2 c.178_181del - r.(?) p.(Gln60Thrfs*35)
+/+ 2 c.212A>C - r.(212a>c) p.(His71Pro)
+/. 2 c.212A>C - r.(?) p.(His71Pro)
+/. 2 c.212A>C - r.(?) p.(His71Pro)
+/+ 2 c.217C>T - r.(217c>u) p.(Arg73Cys)
+/. 2 c.217C>T - r.(?) p.(Arg73Cys)
+/. 2 c.217C>T - r.(?) p.(Arg73Cys)
+/. 2 c.217C>T - r.(?) p.(Arg73Cys)
+/. 2 c.217C>T - r.(?) p.(Arg73Cys)
+/. 2 c.217C>T - r.(?) p.(Arg73Cys)
+/. 2 c.217C>T - r.(?) p.(Arg73Cys)
+/. 2 c.217C>T - r.(?) p.(Arg73Cys)
+/. 2 c.217C>T - r.(?) p.(Arg73Cys)
+/+ 2 c.230C>T - r.(230c>u) p.(Ser77Leu)
+/. 2 c.230C>T - r.(?) p.(Ser77Leu)
+/. 2 c.230C>T - r.(?) p.(Ser77Leu)
+/. 2 c.230C>T - r.(?) p.(Ser77Leu)
+/. 2 c.230C>T - r.(?) p.(Ser77Leu)
+/. 2 c.248A>G - r.(?) p.(His83Arg)
+/. 2 c.248A>G - r.(?) p.(His83Arg)
+/. 2 c.248A>G - r.(?) p.(His83Arg)
+/. 2 c.248A>G - r.(?) p.(His83Arg)
+/+ 2i c.259-1G>C - r.spl? p.?
+/. 2i c.259-1G>C - r.spl? p.(Thr87_Gln113del)
+/. 2i c.259-1G>C - r.spl? p.?
+/. 3 c.280C>T - r.(?) p.(Arg94Trp)
+?/. 3 c.280C>T - r.280c>u p.Arg94Trp
+/. 3 c.280C>T - r.(?) p.(Arg94Trp)
+/. 3 c.280C>T - r.(?) p.(Arg94Trp)
+/. 3 c.280C>T - r.(?) p.(Arg94Trp)
+/. 3 c.280C>T - r.(?) p.(Arg94Trp)
+/. 3 c.280C>T - r.(?) p.(Arg94Trp)
+/. 3 c.280C>T - r.(?) p.(Arg94Trp)
+/. 3 c.280C>T - r.(?) p.(Arg94Trp)
+/. 3 c.280C>T - r.(?) p.(Arg94Trp)
+/. 3 c.293T>G - r.(?) p.(Met98Arg)
+/. 3 c.293T>G - r.(?) p.(Met98Arg)
+/. 3 c.317T>C - r.(?) p.(Ile106Thr)
+/. 3 c.317T>C - r.(?) p.(Ile106Thr)
+/. 3 c.317T>C - r.(?) p.(Ile106Thr)
+/. 3 c.317T>C - r.(?) p.(Ile106Thr)
+/. 3 c.317T>C - r.(?) p.(Ile106Thr)
+/. 3i c.340-1G>A - r.spl p.(Gly114_GlyLeun157del)
+/. 3i c.340-1G>A - r.spl p.?
+/. 4 c.350C>T - r.(?) p.(Ser117Leu)
+/. 4 c.350C>T - r.(?) p.(Ser117Leu)
+/. 4 c.350C>T - r.(?) p.(Ser117Leu)
+/. 4 c.350C>T - r.(?) p.(Ser117Leu)
+/. 4 c.395_400del - r.(?) p.(Val132_Asn134delinsAsp)
+/. 4 c.434A>T - r.(?) p.(Asn145Ile)
+/+ 4 c.434A>T - r.(434a>u) p.(Asn145Ile)
+/. 4 c.434A>T - r.(?) p.(Asn145Ile)
+/. 4 c.451_466del - r.(?) p.(Lys151Cysfs*25)
+/. 4 c.451_466del - r.(?) p.(Lys151Cysfs*25)
+/. 4 c.452_465del - r.(?) p.(Lys151Asnfs*22)
+/. 4 c.452_465del - r.(?) p.(Lys151Asnfs*22)
+/+ 4 c.452_466del - r.(452_466del) p.(Lys151_Leu155del)
+/. 4 c.452_466del - r.(?) p.(Lys151_Leu155del)
+/. 4 c.452_466del - r.(?) p.(Lys151_Leu155del)
+/. 4 c.452_466del - r.(?) p.(Lys151_Leu155del)
+/. 4 c.452_466del - r.(?) p.(Lys151_Leu155del)
+/. 4 c.452_466del - r.(?) p.(Lys151_Leu155del)
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