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t(12;22)(q14;q13) HMGA2/EFCAB6

Written2018-01Jean-Loup Huret, Philippe Dessen

(Note : for Links provided by Atlas : click)

Identity

ICD-Topo C420,C421,C424 BLOOD, BONE MARROW, & HEMATOPOIETIC SYS
Atlas_Id 2771
Note Non-annotated chromosomal abnormality. Preliminary data :
if you are an author who wish to write a full paper/card on this translocation, go to  How to contribute

Clinics and Pathology

Disease Chronic myeloproliferative disorder, NOS

Genes involved and Proteins

Gene NameHMGA2
Location 12q14.3
Gene NameEFCAB6
Location 22q13.2

Bibliography

Identification of a HMGA2-EFCAB6 gene rearrangement following next-generation sequencing in a patient with a t(12;22)(q14
Martin SE, Sausen M, Joseph A, Kingham BF, Martin ES
3;q13 2) and JAK2V617F-positive myeloproliferative neoplasm
PMID 22749035
 


Translocations implicated (Data extracted from papers in the Atlas)

 t(12;22)(q14;q13) HMGA2/EFCAB6

External links

HMGA2 (12q14.3) EFCAB6 (22q13.2)

Mitelman databaset(12;22)(q14;q13) [Case List]    t(12;22)(q14;q13) [Transloc-MCList] HMGA2/EFCAB6 [Fusion-MCList]
COSMICHisto = - Site = haematopoietic_and_lymphoid_tissue (COSMIC)
arrayMap (UZH-SIB Zurich)[select an item]
 
 
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed


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indexed on : Wed Nov 28 16:23:41 CET 2018


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