Types of variants Flashcards
1
Q
What are the 5 types of variants?
A
- Substitution- one letter (nucleotide) of the DNA code is replaced (substituted) by one other letter. A substitution is indicated using ”>”
e. g. c.4375C>T - Deletion- one or more letters of the DNA code are missing (deleted). A deletion is indicated using “del”
e. g. c.4375_4379delCGATT - Duplication- one or more letters of the DNA code are present twice (doubled, duplicated). A duplication is indicated using “dup”.
e. g. c.4375_4385dup - Insertion- one or more letters in the DNA code are new (inserted). An insertion is indicated using “ins”.
e. g. c.4375_4376insACCT - Deletion/insertion- one or more letters in the DNA code are missing and replaced by several new letters. A deletion/insertion is indicated using “delins”.
e. g. c.4375_4376delinsAGTT