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Gene : 108228209 Homo sapiens

Description  This region is known to undergo non-allelic homologous recombination (NAHR) with another region, the 7q11.23 proximal recombination region, found about 1.2 Mb centromere-proximal to this region, in direct orientation relative to this region. This region is found within a GC-rich region of a low-copy repeat, known as the distal HIP1-LCR. NAHR between this region and the 7q11.23 proximal recombination region can result in deletions and duplications of the intervening sequence. Since both of these regions are located centromere-distal to the Williams-Beuren syndrome recombination regions, the 1.2 Mb deletion that can result from NAHR between this region and the 7q11.23 distal recombination region is known as the distal 7q11.23 deletion. This deletion involves multiple genes, including the huntingtin interacting protein 1 (HIP1) and tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma (YWHAG) genes. Phenotypic consequences of the deletion can include developmental delays, epilepsy and neurobehavioral problems, but incomplete penetrance and variable expressivity has been observed. A recombination breakpoint from individuals with the genomic rearrangement is indicated as an NAHR sub-region on the record. [provided by RefSeq, Jun 2016]
  • identifiers:
  • 108228209

Genome feature

Region: gene ?
Location: No location information in HumanMine


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