HGMD mutation naming convention
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9.2 years ago
ostrokach ▴ 350

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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7.7 years ago
yasin.delco ▴ 20

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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8.8 years ago

CS means splicing mutation. I am unsure about the other ones

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