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?

  • 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 '16 at 13:39
  • 1
    $\begingroup$ You could check the whole HGVS guideline varnomen.hgvs.org for explanations (also @WYSIWYG is right). $\endgroup$ – Maxim Kuleshov Jun 28 '16 at 15:09

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
|improve this answer|||||

Your Answer

By clicking “Post Your Answer”, you agree to our terms of service, privacy policy and cookie policy

Not the answer you're looking for? Browse other questions tagged or ask your own question.