Facebook
Twitter
SCN1A.NET
Home
About Us
Topics
SCN1A Registry
About SCN1A
Search Registry
Download
FAQ
Contact
Partners
Home
About Us
Topics
SCN1A Registry
About SCN1A
Search Registry
Download
FAQ
Contact
Partners
Search Registry
Search Conditions
Genomic position
cds position
AA position
AA alteration type
Missense
Truncation
Non-frame shift indels
Stop loss
Splicing
Micro-deletion
Micro-duplication
Whole gene deletion
VUS
Others
Exon/Intron
Promoter
Exon1
Exon2
Exon3
Exon4
Exon5
Exon6
Exon7
Exon8
Exon9
Exon10
Exon11
Exon12
Exon13
Exon14
Exon15
Exon16
Exon17
Exon18
Exon19
Exon20
Exon21
Exon22
Exon23
Exon24
Exon25
Exon26
Intron1
Intron2
Intron3
Intron4
Intron5
Intron6
Intron7
Intron8
Intron9
Intron10
Intron11
Intron12
Intron13
Intron14
Intron15
Intron16
Intron17
Intron18
Intron19
Intron20
Intron21
Intron22
Intron23
Intron24
Intron25
Protein Domain
N-terminus
DIS1
DIS1S2 loop
DIS2
DIS2S3 loop
DIS3
DIS3S4 loop
DIS4
DIS4S5 loop
DIS5
DIS5S6 loop
DIS6
DIDII linker
DIIS1
DIIS1S2 loop
DIIS2
DIIS2S3 loop
DIIS3
DIIS3S4 loop
DIIS4
DIIS4S5 loop
DIIS5
DIIS5S6 loop
DIIS6
DIIDIII linker
DIIIS1
DIIIS1S2 loop
DIIIS2
DIIIS2S3 loop
DIIIS3
DIIIS3S4 loop
DIIIS4
DIIIS4S5 loop
DIIIS5
DIIIS5S6 loop
DIIIS6
DIIIDIV linker
DIVS1
DIVS1S2 loop
DIVS2
DIVS2S3 loop
DIVS3
DIVS3S4 loop
DIVS4
DIVS4S5 loop
DIVS5
DIVS5S6 loop
DIVS6
C-terminus
Variant Classification
Pathogenic
Likely pathogenic
Benign
Likely benign
Uncertain significance
Clinical diagnosis
Age of seizure onset
no lower limit
1 month old
2 months old
3 months old
4 months old
5 months old
6 months old
7 months old
8 months old
9 months old
10 months old
11 months old
1 year old
2 years old
3 years old
4 years old
5 years old
6 years old
7 years old
8 years old
9 years old
10 years old
-
no higher limit
1 month old
2 months old
3 months old
4 months old
5 months old
6 months old
7 months old
8 months old
9 months old
10 months old
11 months old
1 year old
2 years old
3 years old
4 years old
5 years old
6 years old
7 years old
8 years old
9 years old
10 years old
Search Results
c.1-?_6030+?del: Whole gene deletion
c.1-?_6030+?del: Whole gene deletion
c.1-?_6030+?disrupt: Others
c.1-?_6030+?del: Whole gene deletion
c.1-?_6030+?del: Whole gene deletion
c.3696del22insG?: p.Leu1235fs*1243?: Truncation
c.1-?_6030+?del: Whole gene deletion
c.4058?-4061?del/dup: p.Cys1354Phefs*6/p.Cys1354Trpfs*25: Truncation
50 / 50
« First
«
...
10
20
30
...
46
47
48
49
50
