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Variant : CV101521 (NM_014795.4(ZEB2):c.1541dup (p.Val515fs)) Homo sapiens

Symbol: CV101521
Name: NM_014795.4(ZEB2):c.1541dup (p.Val515fs)
Condition: Mowat-Wilson syndrome [RCV000081656]
Clinical Significance: pathogenic
Last Evaluated: 07/27/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ZEB2  
Variant Type: duplication (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: clinical testing
HGVS Name(s): NM_014795.3:c.1541dupC
NP_001165124.1:p.Val491fs
NP_055610.1:p.Val515fs
NG_016431.1:g.125746dup
NM_001171653.2:c.1469dup
NM_014795.4:c.1541dup
NC_000002.12:g.144399647dup
NC_000002.11:g.145157214dup
Position
Human AssemblyChrPosition (strand)Source
GRCh382144,399,646 - 144,399,646CLINVAR
GRCh372145,157,213 - 145,157,213CLINVAR
Cytogenetic Map22q22.3CLINVAR
Age Of Onset: antenatal|neonatal/infancy



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8642537
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-11-12
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.