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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?

Options

Choose one · Correct answer highlighted

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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