Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV516355 (NM_014795.4(ZEB2):c.2327A>G (p.Asp776Gly)) Homo sapiens

Symbol: CV516355
Name: NM_014795.4(ZEB2):c.2327A>G (p.Asp776Gly)
Condition: Mowat-Wilson syndrome [RCV000642251]
Clinical Significance: uncertain significance
Last Evaluated: 09/01/2017
Review Status: criteria provided, single submitter
Related Genes: ZEB2  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NG_016431.1:g.126532A>G
NC_000002.12:g.144398860T>C
NC_000002.11:g.145156427T>C
NP_055610.1:p.Asp776Gly
NM_001171653.2:c.2255A>G
NM_014795.4:c.2327A>G
NM_014795.3:c.2327A>G
NP_001165124.1:p.Asp752Gly
Position
Human AssemblyChrPosition (strand)Source
GRCh382144,398,860 - 144,398,860CLINVAR
GRCh372145,156,427 - 145,156,427CLINVAR
Cytogenetic Map22q22.3CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13612310
Created: 2018-06-12
Species: Homo sapiens
Last Modified: 2019-12-03
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.