Event ID![]() ![]() |
Disease: Mental Retardation Syndrome ( DOID![]() |
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Event Information |
Precision: A![]() |
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Chromosome Rearrangement Type: Reciprocal Translocation![]() |
Chromosome: 4, 5 |
Karyotype![]() |
Breakpoints Information: |
First Breakpoint![]() |
Location: q13.1 |
Exact position: Chr4: 66500744bp |
This breakpoint occurs in intron12 of NM_182472.2. |
Second Breakpoint![]() |
Location: p15.33 |
Exact position: Chr5: 2924314bp |
This breakpoint occurs in an intergenic region |
Junction Sequence(5'): ACTATTGTCAAAATCTGAGTACCAGAATGCAACTCAGGAGGTGGAGGTTGCAGTGAGCCGTACTGGGGAGGCTGAGGCAGGAGAATCACCTTCTTGATTCAG |
The Junction Sequence is Inferred![]() |
Note: Green and Blue color indicate 5' and 3' sequence according to the breakpoint. |
Experimental Method: PCR, DNA sequencing |
Reference Information |
PubMed ID: 18326688 | ||||
Authors: Chen W,Kalscheuer V,Tzschach A,Menzel C,Ullmann R,Schulz MH,Erdogan F,Li N,Kijas Z,Arkesteijn G,Pajares IL,Goetz-Sothmann M,Heinrich U,Rost I,Dufke A,Grasshoff U,Glaeser B,Vingron M,Ropers HH | ||||
Journal: Genome research |
Go to Genome Browser ( Click the image ) |
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