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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-q13.31

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-q13.31)

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 : Mon May 14 13:45:19 CEST 2018


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jlhuret@AtlasGeneticsOncology.org.