PANK2, pantothenate kinase 2, 80025
N. diseases: 171; N. variants: 49
Source: ALL
Variant | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Disease Class | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 20 | 3910659 | missense variant | A/G | snv | 2.4E-05 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.710 | 1.000 | 8 | 2001 | 2016 | ||||||
|
1.000 | 0.080 | 20 | 3908130 | missense variant | G/A;T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 7 | 2001 | 2016 | |||||||
|
1.000 | 0.080 | 20 | 3908087 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.800 | 1.000 | 7 | 2001 | 2016 | ||||||
|
1.000 | 0.080 | 20 | 3912634 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.800 | 1.000 | 7 | 2001 | 2016 | ||||||||
|
0.925 | 0.080 | 20 | 3910646 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 7 | 2001 | 2016 | ||||||||
|
0.925 | 0.080 | 20 | 3907997 | missense variant | A/G | snv | 1.6E-05 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 7 | 2001 | 2016 | ||||||
|
0.925 | 0.080 | 20 | 3908129 | missense variant | C/T | snv | 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 7 | 2001 | 2016 | |||||||
|
0.882 | 0.080 | 20 | 3918717 | missense variant | C/T | snv | 1.2E-05 | 2.1E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.800 | 1.000 | 7 | 2001 | 2016 | ||||||
|
1.000 | 0.080 | 20 | 3912460 | missense variant | T/C | snv | 4.0E-06 | 2.1E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 7 | 2001 | 2016 | ||||||
|
1.000 | 0.080 | 20 | 3910806 | missense variant | A/T | snv | 6.4E-05 | 3.5E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 7 | 2001 | 2016 | ||||||
|
1.000 | 0.080 | 20 | 3910665 | missense variant | G/A;C | snv | 4.0E-06; 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 7 | 2001 | 2016 | |||||||
|
1.000 | 0.080 | 20 | 3910787 | missense variant | G/A | snv | 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 7 | 2001 | 2016 | |||||||
|
1.000 | 0.080 | 20 | 3917013 | missense variant | A/T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 7 | 2001 | 2016 | |||||||
|
1.000 | 0.080 | 20 | 3889501 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 7 | 2001 | 2016 | ||||||||
|
1.000 | 0.080 | 20 | 3917016 | missense variant | T/A;C | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 7 | 2001 | 2016 | |||||||
|
1.000 | 0.080 | 20 | 3908233 | stop gained | T/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 20 | 3916940 | frameshift variant | ATGA/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 |