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Gene Protein AA change dbSNP Phenotype Chain Detail
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1 ALDH7A1 P49419 p.Thr15Ser rs1049211 variant of unknown significance
Detail
0.70 (T)
(-)
N
2 ALDH7A1 P49419 p.Trp22Cys rs1049217 variant of unknown significance
Detail
0.20 (T)
(-)
N
3 ALDH7A1 P49419 p.Leu47Phe rs144684547 variant of unknown significance
2j6l
B
Detail
(-)
(-)
N
4 ALDH7A1 P49419 p.Thr68Asn rs58528748 variant of unknown significance
2j6l
B
Detail
0.39 (T)
(-)
D ( Predicted by rules : 1 2 )
4 ALDH7A1 P49419 p.Leu121Ser rs145329188 variant of unknown significance
2j6l
B
Detail
(-)
(-)
D ( Predicted by rules : 1 )
3 ALDH7A1 P49419 p.Ile125Val rs117295656 variant of unknown significance
2j6l
B
Detail
0.12 (T)
0 (N)
N
4 ALDH7A1 P49419 p.Ala177Pro rs140102105 variant of unknown significance
2j6l
B
Detail
(-)
(-)
N
5 ALDH7A1 P49419 p.Val185Ile rs61757685 variant of unknown significance
2j6l
B
Detail
0.30 (T)
(-)
N
6 ALDH7A1 P49419 p.Ala199Val rs121912709 Pyridoxine-dependent epilepsy (PDE) [MIM:266100]
2j6l
B
Detail
0.01 (D)
(-)
N
7 ALDH7A1 P49419 p.Thr222Ile rs140827978 variant of unknown significance
2j6l
B
Detail
(-)
(-)
N
8 ALDH7A1 P49419 p.Pro244Thr rs140701322 variant of unknown significance
2j6l
B
Detail
(-)
(-)
D ( Predicted by rules : 1 )
3 ALDH7A1 P49419 p.Asn301Ile rs121912711 EPILEPSY, PYRIDOXINE-DEPENDENT [MIM:107323#0008]
2j6l
B
Detail
(-)
(-)
D ( Predicted by rules : 1 )
3 ALDH7A1 P49419 p.Ala305Gly rs141775154 variant of unknown significance
2j6l
B
Detail
(-)
(-)
D ( Predicted by rules : 1 2 3 )
5 ALDH7A1 P49419 p.Ser317Leu rs148052962 variant of unknown significance
2j6l
B
Detail
(-)
(-)
D ( Predicted by rules : 1 2 )
4 ALDH7A1 P49419 p.Ala321Val rs3189320 variant of unknown significance
2j6l
B
Detail
0.01 (D)
(-)
N
5 ALDH7A1 P49419 p.Ala333Val rs144625212 variant of unknown significance
2j6l
B
Detail
(-)
(-)
N
6 ALDH7A1 P49419 p.Arg334Gly rs111319259 variant of unknown significance
2j6l
B
Detail
0.02 (D)
(-)
D ( Predicted by rules : 1 2 )
4 ALDH7A1 P49419 p.Ser341Asn rs141701364 variant of unknown significance
2j6l
B
Detail
(-)
(-)
N
5 ALDH7A1 P49419 p.Gln356Glu rs138675705 variant of unknown significance
2j6l
B
Detail
(-)
(-)
N
6 ALDH7A1 P49419 p.Arg358Leu rs144671885 variant of unknown significance
2j6l
B
Detail
(-)
(-)
N
7 ALDH7A1 P49419 p.Val378Ala rs7447092 variant of unknown significance
2j6l
B
Detail
0.34 (T)
(-)
N
8 ALDH7A1 P49419 p.Ala384Thr rs140947675 variant of unknown significance
2j6l
B
Detail
(-)
(-)
D ( Predicted by rules : 1 )
3 ALDH7A1 P49419 p.Arg404Cys rs181287032 variant of unknown significance
2j6l
B
Detail
(-)
(-)
D ( Predicted by rules : 1 2 )
4 ALDH7A1 P49419 p.Thr412Ala rs56220725 variant of unknown significance
2j6l
B
Detail
0.42 (T)
(-)
N
5 ALDH7A1 P49419 p.Glu427Gln rs121912707 Pyridoxine-dependent epilepsy (PDE) [MIM:266100]
2j6l
B
Detail
0.00 (D)
(-)
D ( Predicted by rules : 1 )
3 ALDH7A1 P49419 p.Pro431Leu rs151107837 variant of unknown significance
2j6l
B
Detail
(-)
(-)
D ( Predicted by rules : 1 2 )
4 ALDH7A1 P49419 p.Lys439Gln rs12514417 variant of unknown significance
2j6l
B
Detail
0.34 (T)
(-)
N
5 ALDH7A1 P49419 p.Ile459Phe rs186558364 variant of unknown significance
2j6l
B
Detail
(-)
(-)
N
6 ALDH7A1 P49419 p.Arg466Gly rs113609617 variant of unknown significance
2j6l
B
Detail
0.23 (T)
(-)
D ( Predicted by rules : 1 )
3 ALDH7A1 P49419 p.Arg469His rs147940248 variant of unknown significance
2j6l
B
Detail
(-)
(-)
N
4 ALDH7A1 P49419 p.Val481Ala rs144701796 variant of unknown significance
2j6l
B
Detail
(-)
(-)
N
5 ALDH7A1 P49419 p.Glu507Gly rs80049945 variant of unknown significance
2j6l
B
Detail
0.00 (D)
(-)
D ( Predicted by rules : 1 2 3 )
5 ALDH7A1 P49419 p.Thr523Ala rs61757684 variant of unknown significance
2j6l
B
Detail
0.12 (T)
(-)
N