Graphs & statistics on gene NF1
Variant type (DNA level, all public variants)
All public variants (719)
| Deletions | | Duplications | | Insertions | | Substitutions |
Substitutions
95%
|
Unique public variants (269)
| Deletions | | Duplications | | Insertions | | Substitutions |
Substitutions
94%
|
Variant type (DNA level, all public pathogenic variants)
All public pathogenic variants (10)
Deletions
50% Substitutions
50%
|
Unique public pathogenic variants (8)
Deletions
50% Substitutions
50%
|
Variant type (Protein level, all public variants) (note: numbers are sums for all transcripts of this gene)
All public variants (1711)
| Unknown | | Frameshifts | | Missense changes | | Silent changes | | Stop changes |
Unknown
31% Missense changes
16% Silent changes
51%
|
Unique public variants (79)
| Unknown | | Frameshifts | | Missense changes | | Silent changes | | Stop changes |
Frameshifts
5% Missense changes
87%
|
Variant type (Protein level, all public pathogenic variants) (note: numbers are sums for all transcripts of this gene)
All public pathogenic variants (26)
| Unknown | | Frameshifts | | Silent changes | | Stop changes |
Unknown
15% Frameshifts
46% Silent changes
12% Stop changes
27%
|
Unique public pathogenic variants (9)
| Unknown | | Frameshifts | | Silent changes | | Stop changes |
Unknown
11% Frameshifts
44% Silent changes
11% Stop changes
33%
|
Variant location (DNA level, all public variants) (note: numbers are sums for all transcripts of this gene)
All public variants (1711)
| 3'UTR | | 5'UTR | | Coding | | Intron | | Splice region |
Coding
59% Intron
38%
|
Unique public variants (269)
| 3'UTR | | 5'UTR | | Coding | | Intron | | Splice region |
Coding
53% Intron
43%
|
Variant type (DNA level, all public pathogenic variants) (note: numbers are sums for all transcripts of this gene)
All public pathogenic variants (26)
Coding
81% Splice region
19%
|
Unique public pathogenic variants (8)
Coding
88% Splice region
13%
|
|
