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Variant : CV552050 (NM_014795.4(ZEB2):c.2757del (p.Leu920fs)) Homo sapiens

Symbol: CV552050
Name: NM_014795.4(ZEB2):c.2757del (p.Leu920fs)
Condition: Mowat-Wilson syndrome [RCV000680143]
Clinical Significance: pathogenic
Last Evaluated: 09/01/2017
Review Status: criteria provided, single submitter
Related Genes: ZEB2  
Variant Type: deletion (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: clinical testing
HGVS Name(s): NG_016431.1:g.126962del
NM_001171653.2:c.2685del
NM_014795.4:c.2757del
NC_000002.12:g.144398432del
NC_000002.11:g.145155999del
NM_014795.3:c.2757delG
NP_001165124.1:p.Leu896fs
NP_055610.1:p.Leu920fs
Position
Human AssemblyChrPosition (strand)Source
GRCh382144,398,430 - 144,398,430CLINVAR
GRCh372145,155,996 - 145,155,997CLINVAR
Cytogenetic Map22q22.3CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13794759
Created: 2018-10-09
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.