Graphs and statistics for the NBN gene
Variant type (DNA level, all public variants)
All public variants (115)
| Unknown | | Deletions | | Duplications | | Substitutions |
Substitutions
96%
|
Unique public variants (27)
| Unknown | | Deletions | | Duplications | | Substitutions |
Deletions
11% Substitutions
81%
|
Variant type (DNA level, all public pathogenic variants)
All public pathogenic variants (5)
| Unknown | | Deletions | | Duplications |
Unknown
20% Deletions
60% Duplications
20%
|
Unique public pathogenic variants (5)
| Unknown | | Deletions | | Duplications |
Unknown
20% Deletions
60% Duplications
20%
|
Variant type (Protein level, all public variants) (note: numbers are sums for all transcripts of this gene)
All public variants (115)
| Unknown | | Frameshifts | | Missense changes | | Silent changes |
Missense changes
28% Silent changes
68%
|
Unique public variants (20)
| Unknown | | Frameshifts | | Missense changes | | Silent changes |
Unknown
5% Frameshifts
15% Missense changes
75% Silent changes
5%
|
Variant type (Protein level, all public pathogenic variants) (note: numbers are sums for all transcripts of this gene)
All public pathogenic variants (5)
Unknown
40% Frameshifts
60%
|
Unique public pathogenic variants (4)
Unknown
25% Frameshifts
75%
|
Variant location (DNA level, all public variants) (note: numbers are sums for all transcripts of this gene)
All public variants (115)
| Coding | | Intron | | Splice region |
Coding
84% Intron
14%
|
Unique public variants (27)
| Coding | | Intron | | Splice region |
Coding
85% Intron
7% Splice region
7%
|
Variant type (DNA level, all public pathogenic variants) (note: numbers are sums for all transcripts of this gene)
All public pathogenic variants (5)
Coding
60% Splice region
40%
|
Unique public pathogenic variants (5)
Coding
60% Splice region
40%
|
|
