Event ID![]() ![]() |
Disease: Fabry Disease ( DOID![]() |
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Event Information |
Precision: A![]() |
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Chromosome Rearrangement Type: Duplication![]() |
Chromosome: X |
Karyotype![]() |
Breakpoints Information: |
First Breakpoint![]() |
Location: q22.1 |
Exact position: ChrX: 100653402bp |
This breakpoint occurs in exon 6 of NM_000169.2. |
Second Breakpoint![]() |
Location: q22.1 |
Exact position: ChrX: 100653408bp |
This breakpoint occurs in exon 6 of NM_000169.2. |
Length of Duplication Segment is 5bp. |
Junction Sequence is Unavailable![]() |
Experimental Method: RT-PCR, DNA sequencing |
Reference Information |
PubMed ID: 7504405 | ||||
Authors: Eng CM,Resnick-Silverman LA,Niehaus DJ,Astrin KH,Desnick RJ | ||||
Journal: American journal of human genetics |
Go to Genome Browser ( Click the image ) |
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