4
$\begingroup$

Example:

NM_000525.3(KCNJ11):c. 67A>G ( p. Lys23Glu) AND Permanent neonatal diabetes mellitus

Does "p" stand for "polymorphism"?

What does the letter "c" stand for?

$\endgroup$
2
  • 6
    $\begingroup$ I think c refers to cDNA and p refers to protein. Similarly there is g which most likely refers to genomic DNA. $\endgroup$
    – WYSIWYG
    Jun 28, 2016 at 13:39
  • 1
    $\begingroup$ You could check the whole HGVS guideline varnomen.hgvs.org for explanations (also @WYSIWYG is right). $\endgroup$ Jun 28, 2016 at 15:09

1 Answer 1

7
$\begingroup$

According to the HGVS guidelines, a letter prefix should be used to indicate the reference sequence used. Accepted prefixes are:

  • “g.” for a genomic reference sequence
  • “m.” for a mitochondrial reference sequence
  • “c.” for a coding DNA reference sequence
  • “n.” for a non-coding DNA reference sequence
  • “r.” for an RNA reference sequence (transcript)
  • “p.” for a protein reference sequence
$\endgroup$

You must log in to answer this question.

Not the answer you're looking for? Browse other questions tagged .