HGMD mutation naming convention
Can someone explain the naming convention used by HGMD for their mutations?
I am assuming CM means missense, CD means deletion, but what about CX, CR, CS, CI, CP, and the H_ equivalents like HM, HX, etc.
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yasin.delco •
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ostrokach
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ostrokach
2 answers
M= Missense/Nonsense, S=Splice, R=Regulatory, D=Small deletion, I=Small insertion, X=Small indel, G=Gross deletion, N=Gross insertion/duplication, P=Complex rearrangements, and E=Repeat variations
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yasin.delco •
CS means splicing mutation. I am unsure about the other ones
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christylynn002 •
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