Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV284214 (NM_014795.4(ZEB2):c.*4844_*4845dup) Homo sapiens

Symbol: CV284214
Name: NM_014795.4(ZEB2):c.*4844_*4845dup
Condition: Mowat-Wilson syndrome [RCV000363982]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: ZEB2  
Variant Type: duplication (SO:0001624)
Source: CLINVAR
Molecular Consequence: 3 prime utr variant
Evidence: clinical testing
HGVS Name(s): NG_016431.1:g.140785_140786dup
NM_001171653.2:c.*4844_*4845dup
NM_014795.4:c.*4844_*4845dup
NC_000002.12:g.144384616_144384617dup
NC_000002.11:g.145142183_145142184dup
NM_014795.3:c.*4844_*4845dupAA
Position
Human AssemblyChrPosition (strand)Source
GRCh382144,384,606 - 144,384,607CLINVAR
GRCh372145,142,173 - 145,142,174CLINVAR
Cytogenetic Map22q22.3CLINVAR
Age Of Onset: antenatal



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11635543
Created: 2017-01-11
Species: Homo sapiens
Last Modified: 2019-11-12
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.