Event ID![]() ![]() |
Disease: Tuberous Sclerosis (TSC) ( DOID![]() |
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Event Information |
Precision: A![]() |
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Chromosome Rearrangement Type: Deletion![]() |
Chromosome: 16 |
Karyotype![]() |
Breakpoints Information: |
First Breakpoint![]() |
Location: p13.3 |
Exact position: Chr16: 2100712bp |
This breakpoint occurs in intron2 of NM_001077183.1. |
Second Breakpoint![]() |
Location: p13.3 |
Exact position: Chr16: 2109139bp |
This breakpoint occurs in intron9 of NM_001077183.1. |
Length of Deletion Segment is 8.4Kb. |
Junction Sequence : TCCTGGGTTCAAGCAGTTCTCCTGCCTCAGACTCCTGAGTAGCTGGGATTACAG |
The Junction Sequence is Inferred![]() |
Note: Green and Blue color indicate 5' and 3' sequence according to the breakpoint. |
Experimental Method: Southern blot, PCR, DNA sequencing |
Reference Information |
PubMed ID: 11281455 | ||||
Authors: Longa L,Saluto A,Brusco A,Polidoro S,Padovan S,Allavena A,Carbonara C,Grosso E,Migone N | ||||
Journal: Human genetics |
Go to Genome Browser ( Click the image ) |
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