Graphs and statistics for the TSC2 gene
Variant type (DNA level, all public variants)
All public variants (259)
| Deletions | | Indels | | Duplications | | Insertions | | Substitutions |
Deletions
23% Insertions
6% Substitutions
68%
|
Unique public variants (247)
| Deletions | | Indels | | Duplications | | Insertions | | Substitutions |
Deletions
23% Insertions
6% Substitutions
67%
|
Variant type (DNA level, all public pathogenic variants)
All public pathogenic variants
|
Unique public pathogenic variants
|
Variant type (Protein level, all public variants) (note: numbers are sums for all transcripts of this gene)
All public variants (259)
| Unknown | | Frameshifts | | In frame deletions | | In frame indels | | In frame duplications | | Missense changes | | Silent changes | | Stop changes |
Unknown
13% Frameshifts
24% Missense changes
27% Silent changes
21% Stop changes
12%
|
Unique public variants (163)
| Unknown | | Frameshifts | | In frame deletions | | In frame indels | | In frame duplications | | Missense changes | | Silent changes | | Stop changes |
Frameshifts
36% Missense changes
40% Stop changes
18%
|
Variant type (Protein level, all public pathogenic variants) (note: numbers are sums for all transcripts of this gene)
All public pathogenic variants
|
Unique public pathogenic variants
|
Variant location (DNA level, all public variants) (note: numbers are sums for all transcripts of this gene)
All public variants (259)
| 3'UTR | | Coding | | Intron | | Multiple | | Splice region |
Coding
83% Intron
6% Splice region
8%
|
Unique public variants (247)
| 3'UTR | | Coding | | Intron | | Multiple | | Splice region |
Coding
82% Intron
6% Splice region
9%
|
Variant type (DNA level, all public pathogenic variants) (note: numbers are sums for all transcripts of this gene)
All public pathogenic variants
|
Unique public pathogenic variants
|
|
