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HGMD accession number meaning

Hi,

I want find out what do the the prefix string in a HGMD accession number mean. I write down the prefix of the accession numbers I've seen and my guess after my search. Does anybody know something about this? Are they meaningless?

  • 'CI' -> Insertion. Coding.
  • 'CM' -> Substitution. Coding.
  • 'HS' -> Substitution. Intron.
  • 'BM' -> ?
  • 'CG' -> ?
  • 'HX' -> ?
  • 'CD' -> Deletion.Coding
  • 'CX' -> ?
  • 'HI' -> ?
  • 'HM' -> ?
  • 'CS' -> Splice
  • 'CR' -> ?
  • 'CP' -> ?
  • 'HD' -> ?
hgmd
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updated by Ram Ram • written by Atu • Atu

1 answer

These numbers are internal unique identifiers to HGMD. It is best that they are treated this way, and no further meaning is inferred, as they are not a reliable way of identifying the type of mutation associated with them.

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written by stensonpd • stensonpd

Thanks for you answer.

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written by Atu • Atu

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