Genome variation & terminology
25 important questions on Genome variation & terminology
How many libraries is the reference human genome made up of?
What are the three different changes that can occur in a genome?
What does a silent mutation lead to?
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What does a missense mutation lead to?
What does a nonsense mutation lead to?
What does a splice site mutation lead to?
What does a promotor mutation lead to?
What does an in frame insertion or deletion of a codon lead to?
What does a frameshift of one or more amino acids lead to?
What does a partial gene duplication lead to?
What can a whole gene duplication lead to?
What does a dynamic mutation lead to?
When a silent mutation occurs what does c.6T>C; p.(=) encode?
When a missense mutation occurs, what does c.4T>C; p.(Tyr2His) encode?
When a nonsense mutation occurs, what does c.10C>T; p.(Arg4*) encode?
When a frameshift occurs, what does c.13delA; p.(Met5fs*) encode?
When a insertion or duplication occurs, what does c.13dupA; p.(Met5Asnfs*) encode?
When an in frame deletion occurs, what does c.10_12delCGA; p.(Arg4del) encode?
When a splice site changes, what does c.33-1G>A; p.(?) encode?
When a splice site changes, what does c.67+2T>C; p.(?) encode?
What is the result of a single nucleotide variant?
What is the result of a single nucleotide polymorphism?
What is the result of copy number variations?
What is the result of structural variations?
What are structural variations?
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