SCN1A, sodium voltage-gated channel alpha subunit 1, 6323
N. diseases: 42; N. variants: 519
Source: CURATED ×
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 | 2 | 165991779 | frameshift variant | -/A | ins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1.000 | 0.040 | 2 | 166041327 | frameshift variant | -/A | ins |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.040 | 2 | 166048921 | frameshift variant | -/A | delins |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
1.000 | 0.040 | 2 | 166013758 | frameshift variant | -/A | delins |
|
Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 2 | 166013817 | frameshift variant | -/A | delins |
|
Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 2 | 166009749 | frameshift variant | -/A | delins |
|
0.700 | 0 | |||||||||||||
|
1.000 | 0.040 | 2 | 165991983 | frameshift variant | -/AATTCCAA | delins |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.040 | 2 | 165992278 | frameshift variant | -/ACAT | delins |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.040 | 2 | 165991922 | frameshift variant | -/ACCG | delins |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.040 | 2 | 165992391 | stop gained | -/ACTTT | delins |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.040 | 2 | 166009749 | frameshift variant | -/AG | delins |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.040 | 2 | 166073405 | inframe insertion | -/ATC | delins |
|
Nervous System Diseases | 0.700 | 1.000 | 2 | 2009 | 2015 | ||||||||
|
1.000 | 0.040 | 2 | 166056429 | frameshift variant | -/C | delins |
|
Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 2 | 166051751 | frameshift variant | -/CA | delins |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.040 | 2 | 165994167 | frameshift variant | -/CA | delins |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.040 | 2 | 165992024 | frameshift variant | -/CC | ins |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.040 | 2 | 166045044 | frameshift variant | -/G | delins |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.807 | 0.160 | 2 | 166036149 | frameshift variant | -/G | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.807 | 0.160 | 2 | 166036149 | frameshift variant | -/G | delins |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.160 | 2 | 166036149 | frameshift variant | -/G | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
0.807 | 0.160 | 2 | 166036149 | frameshift variant | -/G | delins |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.807 | 0.160 | 2 | 166036149 | frameshift variant | -/G | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
0.807 | 0.160 | 2 | 166036149 | frameshift variant | -/G | delins |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.160 | 2 | 166036149 | frameshift variant | -/G | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.807 | 0.160 | 2 | 166036149 | frameshift variant | -/G | delins |
|
Pathological Conditions, Signs and Symptoms | 0.700 | 0 |