Graphs & statistics on gene MSH2
Variant type (DNA level, all public variants)
All public variants (367)
| Unknown | | Deletions | | Duplications | | Insertions | | Substitutions |
Deletions 8% Substitutions 88%
|
Unique public variants (108)
| Unknown | | complex | | Deletions | | Duplications | | Insertions | | Substitutions |
Deletions 6% Substitutions 89%
|
Variant type (DNA level, all public pathogenic variants)
All public pathogenic variants (43)
| Unknown | | Deletions | | Duplications | | Substitutions |
Unknown 7% Deletions 47% Substitutions 42%
|
Unique public pathogenic variants (17)
| Unknown | | complex | | Deletions | | Duplications | | Substitutions |
Unknown 6% complex 12% Deletions 18% Duplications 6% Substitutions 59%
|
Variant type (Protein level, all public variants) (note: numbers are sums for all transcripts of this gene)
All public variants (733)
| Unknown | | Frameshifts | | In frame deletions | | Missense changes | | Silent changes | | Stop changes |
Missense changes 21% Silent changes 67%
|
Unique public variants (109)
| Unknown | | Frameshifts | | In frame deletions | | Missense changes | | Silent changes | | Stop changes |
Frameshifts 6% Missense changes 72% Stop changes 15%
|
Variant type (Protein level, all public pathogenic variants) (note: numbers are sums for all transcripts of this gene)
All public pathogenic variants (85)
| Unknown | | Frameshifts | | In frame deletions | | Missense changes | | Stop changes |
Unknown 25% Frameshifts 21% In frame deletions 12% Missense changes 9% Stop changes 33%
|
Unique public pathogenic variants (31)
| Unknown | | Frameshifts | | In frame deletions | | Missense changes | | Stop changes |
Frameshifts 23% In frame deletions 10% Missense changes 13% Stop changes 52%
|
Variant location (DNA level, all public variants) (note: numbers are sums for all transcripts of this gene)
All public variants (733)
| Unknown | | 3'UTR | | 5'UTR | | Coding | | Intron | | Splice region |
Coding 64% Intron 32%
|
Unique public variants (108)
| Unknown | | 3'UTR | | 5'UTR | | Coding | | Intron | | Splice region |
Coding 62% Intron 31%
|
Variant type (DNA level, all public pathogenic variants) (note: numbers are sums for all transcripts of this gene)
All public pathogenic variants (85)
|
Unique public pathogenic variants (17)
|
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