Event ID![]() ![]() |
Disease: Mucolipidosis III Gamma ( 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: 1412642bp |
This breakpoint occurs in exon10 of NM_032520.3. |
Second Breakpoint![]() |
Location: p13.3 |
Exact position: Chr16: 1412669bp |
This breakpoint occurs in exon10 of NM_032520.3. |
Length of Deletion Segment is 28bp. |
Junction Sequence : ACCCATTCGGCACTTAGACCTCTGCCTCCCGGGCTCAAGTGATTCTCCCACCTCAGCTTCCTGACTGGCTGGGACCACAGGCGCCCACCACCAAGCCTGGACCCATTCGGCACTTAGACCTCTGCCTCCCGGGCTCAAGTGATTCTCCCACCTCAGCTTCCTGACTGGCTGGGACCACAGGCGCCCACCACCAAGCCTGG |
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: 19370764 | ||||
Authors: Persichetti E,Chuzhanova NA,Dardis A,Tappino B,Pohl S,Thomas NS,Rosano C,Balducci C,Paciotti S,Dominissini S,Montalvo AL,Sibilio M,Parini R,Rigoldi M,Di Rocco M,Parenti G,Orlacchio A,Bembi B,Cooper DN,Filocamo M,Beccari T | ||||
Journal: Human mutation |
Go to Genome Browser ( Click the image ) |
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