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Variant : CV187149 (NM_014795.3(ZEB2):c.404-?_(*5076_?)del) Homo sapiens

Symbol: CV187149
Name: NM_014795.3(ZEB2):c.404-?_(*5076_?)del
Condition: Mowat-Wilson syndrome [RCV000169701]
Clinical Significance: pathogenic
Last Evaluated: 03/02/2015
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ZEB2  
Variant Type: deletion (SO:0000159)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NM_014795.3:c.404-?_(*5076_?)del
Position No map positions available.
Age Of Onset: antenatal|neonatal/infancy



Disease Annotations
References - curated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 10041662
Created: 2015-05-12
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.