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

Variant : CV196021 (NM_014795.4(ZEB2):c.2641A>C (p.Asn881His)) Homo sapiens

Symbol: CV196021
Name: NM_014795.4(ZEB2):c.2641A>C (p.Asn881His)
Condition: Mowat-Wilson syndrome [RCV000642259]|not specified [RCV000180320]
Clinical Significance: uncertain significance
Last Evaluated: 12/01/2017
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.126846A>C
NC_000002.12:g.144398546T>G
NC_000002.11:g.145156113T>G
NP_055610.1:p.Asn881His
NM_001171653.2:c.2569A>C
NM_014795.4:c.2641A>C
NM_014795.3:c.2641A>C
NP_001165124.1:p.Asn857His
Position
Human AssemblyChrPosition (strand)Source
GRCh382144,398,546 - 144,398,546CLINVAR
GRCh372145,156,113 - 145,156,113CLINVAR
Cytogenetic Map22q22.3CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 10053262
Created: 2015-07-14
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.