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Gene Protein AA change dbSNP Phenotype Chain Detail
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1 PANK2 Q9BZ23 p.Asp46Val rs148036492 variant of unknown significance
Detail
0.25 (T)
0.001 (N)
N
2 PANK2 Q9BZ23 p.Arg94Pro rs71647827 variant of unknown significance
Detail
0.27 (T)
0.996 (D)
N
3 PANK2 Q9BZ23 p.Leu111Gln rs71647828 variant of unknown significance
Detail
0.70 (T)
0.989 (D)
N
4 PANK2 Q9BZ23 p.Gly126Ala rs3737084 variant of unknown significance
Detail
1.00 (T)
0 (N)
N
5 PANK2 Q9BZ23 p.Glu134Gly - Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]
Detail
0.25 (T)
0.321 (N)
N
6 PANK2 Q9BZ23 p.Ile218Val rs188211202 variant of unknown significance
3smp
B
Detail
(-)
(-)
N
7 PANK2 Q9BZ23 p.Gly219Val - Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]
3smp
B
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 3 )
5 PANK2 Q9BZ23 p.Thr234Ala rs137852965 Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]
3smp
B
Detail
0.37 (T)
0.931 (D)
D ( Predicted by rules : 1 )
3 PANK2 Q9BZ23 p.Val242Leu rs11538610 variant of unknown significance
3smp
B
Detail
0.17 (T)
0.621 (D)
N
4 PANK2 Q9BZ23 p.Arg249Pro - Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]
3smp
B
Detail
0.23 (T)
1 (D)
D ( Predicted by rules : 1 2 3 )
5 PANK2 Q9BZ23 p.Asn255Ser rs143474105 variant of unknown significance
3smp
B
Detail
0.19 (T)
0.94 (D)
N
6 PANK2 Q9BZ23 p.Arg264Trp rs137852961 Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]
3smp
B
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 3 )
5 PANK2 Q9BZ23 p.Arg278Cys rs137852966 Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]
3smp
B
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 3 4 )
6 PANK2 Q9BZ23 p.Arg278Leu - Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]
3smp
B
Detail
0.05 (T)
1 (D)
D ( Predicted by rules : 1 2 3 4 )
6 PANK2 Q9BZ23 p.Leu282Val - Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]
3smp
B
Detail
0.10 (T)
0.999 (D)
N
7 PANK2 Q9BZ23 p.Arg286Cys rs137852962 Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]
3smp
B
Detail
0.08 (T)
1 (D)
D ( Predicted by rules : 1 2 )
4 PANK2 Q9BZ23 p.Glu322Asp - Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]
3smp
B
Detail
0.32 (T)
0.996 (D)
D ( Predicted by rules : 1 2 )
4 PANK2 Q9BZ23 p.Glu322Gly - Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]
3smp
B
Detail
0.21 (T)
1 (D)
D ( Predicted by rules : 1 )
3 PANK2 Q9BZ23 p.Thr327Ile - Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]
3smp
B
Detail
0.17 (T)
0.994 (D)
N
4 PANK2 Q9BZ23 p.Tyr348Phe rs139048254 variant of unknown significance
3smp
B
Detail
0.53 (T)
0.383 (N)
D ( Predicted by rules : 1 )
3 PANK2 Q9BZ23 p.Ser351Pro rs137852964 Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]
3smp
B
Detail
0.05 (D)
0.998 (D)
D ( Predicted by rules : 1 )
3 PANK2 Q9BZ23 p.Asn355Ser - Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]
3smp
B
Detail
0.31 (T)
0.025 (N)
N
4 PANK2 Q9BZ23 p.Arg357Gln - Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]
3smp
B
Detail
0.61 (T)
0.395 (N)
N
5 PANK2 Q9BZ23 p.Cys372Tyr rs149907912 variant of unknown significance
3smp
B
Detail
1.00 (T)
1 (D)
N
6 PANK2 Q9BZ23 p.Ala398Thr - Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]
3smp
B
Detail
0.15 (T)
0.642 (D)
D ( Predicted by rules : 1 )
3 PANK2 Q9BZ23 p.Asn404Ile - Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]
3smp
B
Detail
0.05 (T)
0.998 (D)
N
4 PANK2 Q9BZ23 p.Leu413Pro - Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]
3smp
B
Detail
0.04 (D)
1 (D)
D ( Predicted by rules : 1 )
3 PANK2 Q9BZ23 p.Cys428Tyr - Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]
3smp
B
Detail
0.11 (T)
1 (D)
N
4 PANK2 Q9BZ23 p.Met437Thr rs28939088 HARP SYNDROME [MIM:606157#0012]
3smp
B
Detail
0.01 (D)
0.993 (D)
D ( Predicted by rules : 1 )
3 PANK2 Q9BZ23 p.Asp447Asn - Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]
3smp
B
Detail
0.01 (D)
1 (D)
D ( Predicted by rules : 1 )
3 PANK2 Q9BZ23 p.Ser471Asn rs137852963 Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]
3smp
B
Detail
0.02 (D)
0.998 (D)
D ( Predicted by rules : 1 )
3 PANK2 Q9BZ23 p.Glu479Gly rs142937023 variant of unknown significance
3smp
B
Detail
0.23 (T)
0.999 (D)
N
4 PANK2 Q9BZ23 p.Asp488Glu rs147714872 variant of unknown significance
3smp
B
Detail
0.01 (D)
0.998 (D)
D ( Predicted by rules : 1 )
3 PANK2 Q9BZ23 p.Leu494Ser rs111863748 variant of unknown significance
3smp
B
Detail
0.01 (D)
1 (D)
D ( Predicted by rules : 1 )
3 PANK2 Q9BZ23 p.Ile497Thr - Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]
3smp
B
Detail
0.09 (T)
0.992 (D)
D ( Predicted by rules : 1 )
3 PANK2 Q9BZ23 p.Thr498Ile rs142663318 variant of unknown significance
3smp
B
Detail
0.01 (D)
1 (D)
D ( Predicted by rules : 1 )
3 PANK2 Q9BZ23 p.Asn500Ile - Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]
3smp
B
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 )
3 PANK2 Q9BZ23 p.Ile501Thr - Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]
3smp
B
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 )
3 PANK2 Q9BZ23 p.Met507Leu rs146902739 variant of unknown significance
3smp
B
Detail
1.00 (T)
0.848 (D)
D ( Predicted by rules : 1 2 )
4 PANK2 Q9BZ23 p.Ala509Val - Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]
3smp
B
Detail
0.00 (D)
1 (D)
N
5 PANK2 Q9BZ23 p.Asn511Asp - Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]
3smp
B
Detail
0.42 (T)
0.993 (D)
N
6 PANK2 Q9BZ23 p.Gly521Arg rs137852959 Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]
3smp
B
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 3 4 )
6 PANK2 Q9BZ23 p.Thr528Met rs137852967 Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]
3smp
B
Detail
0.30 (T)
0.979 (D)
N
7 PANK2 Q9BZ23 p.Arg532Trp - Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]
3smp
B
Detail
0.01 (D)
1 (D)
N
8 PANK2 Q9BZ23 p.Phe550Leu rs138402319 variant of unknown significance
3smp
B
Detail
0.02 (D)
0.999 (D)
N
9 PANK2 Q9BZ23 p.Leu563Pro - Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]
3smp
B
Detail
0.03 (D)
1 (D)
D ( Predicted by rules : 1 )