Practice question
Question
Suppose there is a deletion of 5 coding DNA nucleotides 234 to 238 position, which of the following is the correct way to depict it according to HGVS format?
Explanation
HGVS nomenclature requires coding DNA deletion described as c.start_enddel, using underscore between positions and del suffix, e.g., c.234_238del indicating nucleotides 234 through 238 deleted. Hyphen or del5 formats are non-compliant. Hence option A follows correct HGVS convention.
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