Types of variants Flashcards

1
Q

What are the 5 types of variants?

A
  1. 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
  2. Deletion- one or more letters of the DNA code are missing (deleted). A deletion is indicated using “del”
    e. g. c.4375_4379delCGATT
  3. 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
  4. Insertion- one or more letters in the DNA code are new (inserted). An insertion is indicated using “ins”.
    e. g. c.4375_4376insACCT
  5. 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
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