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Polymorphism

Last modified September 6, 2013

This subsection of the ‘Sequence’ section provides information on polymorphic variants. If the variant is associated with a disease state, the description of the latter can be found in the ‘Involvement in disease’ subsection.

Comments on single variants are usually found in the ‘Natural variant’ subsection. The subsection ‘Polymorphism’ is used only when the information cannot be accomodated in the ‘Natural variant’ subsection.
Example: P15516

This subsection may contain OMIM accession numbers, if available.
Example: P59533

It can be used to describe global variations in the population, such as blood group systems or polymorphic repeats.
Example: Q92482, P10275
Since repeat expansion may lead to disease onset, both subsections ‘Polymorphism’ and ‘Involvement in disease’ may be present in an entry.
Examples: P54259, P42858

Alleles described in this subsection follow the official nomenclature.
Example: Q03519