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Variant : CV168033 (NM_014795.4(ZEB2):c.747G>A (p.Thr249=)) Homo sapiens

Symbol: CV168033
Name: NM_014795.4(ZEB2):c.747G>A (p.Thr249=)
Condition: Mowat-Wilson syndrome [RCV000148004]
Clinical Significance: uncertain significance
Last Evaluated: 06/12/2013
Review Status: classified by single submitter|criteria provided, single submitter
Related Genes: ZEB2  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): NG_016431.1:g.121416G>A
NC_000002.12:g.144403976C>T
NC_000002.11:g.145161543C>T
NP_055610.1:p.Thr249=
NM_014795.3:c.747G>A
NM_001171653.2:c.675G>A
NM_014795.4:c.747G>A
NP_001165124.1:p.Thr225=
Position
Human AssemblyChrPosition (strand)Source
GRCh382144,403,976 - 144,403,976CLINVAR
GRCh372145,161,543 - 145,161,543CLINVAR
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: 9684234
Created: 2014-12-09
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.