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Variant : CV168034 (NM_014795.4(ZEB2):c.550_568del (p.Ser184fs)) Homo sapiens

Symbol: CV168034
Name: NM_014795.4(ZEB2):c.550_568del (p.Ser184fs)
Condition: Mowat-Wilson syndrome [RCV000148003]
Clinical Significance: pathogenic
Last Evaluated: 02/08/2013
Review Status: classified by single submitter|criteria provided, single submitter
Related Genes: ZEB2  
Variant Type: deletion (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: clinical testing
HGVS Name(s): NM_001171653.2:c.478_496del
NM_014795.4:c.550_568del
NG_016431.1:g.120514_120532del
NG_056148.1:g.466_484del
NC_000002.12:g.144404861_144404879del
NC_000002.11:g.145162428_145162446del
NP_001165124.1:p.Ser160fs
NP_055610.1:p.Ser184fs
NM_014795.3:c.550_568del
Position
Human AssemblyChrPosition (strand)Source
GRCh382144,404,860 - 144,404,878CLINVAR
GRCh372145,162,427 - 145,162,445CLINVAR
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: 9684233
Created: 2014-12-09
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.