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Variant : CV284272 (NM_014795.4(ZEB2):c.*2396_*2397insGT) Homo sapiens

Symbol: CV284272
Name: NM_014795.4(ZEB2):c.*2396_*2397insGT
Condition: Mowat-Wilson syndrome [RCV000345980]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: ZEB2  
Variant Type: insertion (SO:0001624)
Source: CLINVAR
Molecular Consequence: 3 prime utr variant
Evidence: clinical testing
HGVS Name(s): NG_016431.1:g.138337_138338insGT
NM_001171653.2:c.*2396_*2397insGT
NM_014795.4:c.*2396_*2397insGT
NC_000002.12:g.144387055_144387056insCA
NC_000002.11:g.145144622_145144623insCA
NM_014795.3:c.*2396_*2397insGT
Position
Human AssemblyChrPosition (strand)Source
GRCh382144,387,054 - 144,387,055CLINVAR
GRCh372145,144,621 - 145,144,622CLINVAR
Cytogenetic Map22q22.3CLINVAR
Age Of Onset: antenatal



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11658004
Created: 2017-01-11
Species: Homo sapiens
Last Modified: 2019-12-03
Status: ACTIVE



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