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Variant : CV19802 (NM_014795.4(ZEB2):c.3566_3567dup (p.Met1190fs)) Homo sapiens

Symbol: CV19802
Name: NM_014795.4(ZEB2):c.3566_3567dup (p.Met1190fs)
Condition: Mowat-Wilson syndrome [RCV000005029]
Clinical Significance: pathogenic
Last Evaluated: 11/26/2012
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: literature only
HGVS Name(s): NM_001171653.2:c.3494_3495dup
NG_016431.1:g.135862_135863dup
NM_014795.4:c.3566_3567dup
NM_014795.3:c.3566_3567dup
NC_000002.12:g.144389529_144389530dup
NC_000002.11:g.145147096_145147097dup
NP_001165124.1:p.Met1166fs
NP_055610.1:p.Met1190fs
Position
Human AssemblyChrPosition (strand)Source
GRCh382144,389,529 - 144,389,530CLINVAR
GRCh372145,147,096 - 145,147,097CLINVAR
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: 8558271
Created: 2014-05-13
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.