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

Variant : CV516428 (NM_014795.4(ZEB2):c.703G>A (p.Glu235Lys)) Homo sapiens

Symbol: CV516428
Name: NM_014795.4(ZEB2):c.703G>A (p.Glu235Lys)
Condition: Mowat-Wilson syndrome [RCV000642255]
Clinical Significance: uncertain significance
Last Evaluated: 10/25/2017
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): NP_055610.1:p.Glu235Lys
NC_000002.11:g.145161587C>T
NC_000002.12:g.144404020C>T
NG_016431.1:g.121372G>A
NP_001165124.1:p.Glu211Lys
NM_014795.3:c.703G>A
NM_001171653.2:c.631G>A
NM_014795.4:c.703G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh382144,404,020 - 144,404,020CLINVAR
GRCh372145,161,587 - 145,161,587CLINVAR
Cytogenetic Map22q22.3CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13612321
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.