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Variant : CV178162 (NM_014795.4(ZEB2):c.930C>A (p.Tyr310Ter)) Homo sapiens

Symbol: CV178162
Name: NM_014795.4(ZEB2):c.930C>A (p.Tyr310Ter)
Condition: Mowat-Wilson syndrome [RCV000154157]
Clinical Significance: pathogenic
Last Evaluated: 02/25/2014
Review Status: classified by single submitter|criteria provided, single submitter
Related Genes: ZEB2  
Variant Type: single nucleotide variant (SO:0001587)
Source: CLINVAR
Molecular Consequence: nonsense
Evidence: clinical testing
HGVS Name(s): NG_016431.1:g.125135C>A
NC_000002.12:g.144400257G>T
NC_000002.11:g.145157824G>T
NP_055610.1:p.Tyr310*
NP_055610.1:p.Tyr310Ter
NM_001171653.2:c.858C>A
NM_014795.4:c.930C>A
NP_001165124.1:p.Tyr286Ter
Position
Human AssemblyChrPosition (strand)Source
GRCh382144,400,257 - 144,400,257CLINVAR
GRCh372145,157,824 - 145,157,824CLINVAR
Cytogenetic Map22q22.3CLINVAR
Age Of Onset: antenatal|neonatal/infancy



Disease Annotations
References - curated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9688833
Created: 2015-02-10
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.