Graphs and statistics for the ATP7A gene
Variant type (DNA level, all public variants)
All public variants (163)
| Unknown | | Deletions | | Duplications | | Insertions | | Substitutions |
Deletions 19% Insertions 7% Substitutions 72%
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Unique public variants (144)
| Unknown | | Deletions | | Duplications | | Insertions | | Substitutions |
Deletions 22% Insertions 8% Substitutions 68%
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Variant type (DNA level, all public pathogenic variants)
All public pathogenic variants
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Unique public pathogenic variants
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Variant type (Protein level, all public variants) (note: numbers are sums for all transcripts of this gene)
All public variants (163)
| Unknown | | Frameshifts | | In frame deletions | | Missense changes | | Silent changes | | Stop changes |
Unknown 36% Missense changes 34% Stop changes 25%
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Unique public variants (87)
| Unknown | | Frameshifts | | In frame deletions | | Missense changes | | Silent changes | | Stop changes |
Missense changes 56% Stop changes 34%
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Variant type (Protein level, all public pathogenic variants) (note: numbers are sums for all transcripts of this gene)
All public pathogenic variants
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Unique public pathogenic variants
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Variant location (DNA level, all public variants) (note: numbers are sums for all transcripts of this gene)
All public variants
|
Unique public variants
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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
|
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