Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

region 17q21.31

Gene name:
OMIM ID: 613533
Chromosome location: 17q21.31


Disease/PhenotypeChromosome 17q21.31 duplication syndrome
DNA Change485kb duplication
A.A. Change
Mutation Typeduplication
ReferenceKirchhoff M, Bisgaard AM, Duno M, Hansen FJ, Schwartz M.A 17q21.31 microduplication, reciprocal to the newly described 17q21.31 microdeletion, in a girl with severe psychomotor developmental delay and dysmorphic craniofacial features.
Eur J Med Genet. 2007 Jul-Aug;50(4):256-63.

  Variant not named according to HGVS recommendations

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