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

Variant : CV101539 (NM_014795.4(ZEB2):c.805C>T (p.Gln269Ter)) Homo sapiens

Symbol: CV101539
Name: NM_014795.4(ZEB2):c.805C>T (p.Gln269Ter)
Condition: Mowat-Wilson syndrome [RCV000081675]
Clinical Significance: pathogenic
Last Evaluated: 04/22/2013
Review Status: classified by single submitter|criteria provided, single submitter
Related Genes: ZEB2  
Variant Type: single nucleotide variant (SO:0001587)
Source: CLINVAR
Molecular Consequence: stop-gain|nonsense
Evidence: clinical testing
HGVS Name(s): NG_016431.1:g.121474C>T
NC_000002.12:g.144403918G>A
NC_000002.11:g.145161485G>A
NP_055610.1:p.Gln269*
NP_055610.1:p.Gln269Ter
NM_001171653.2:c.733C>T
NM_014795.4:c.805C>T
NM_014795.3:c.805C>T
NP_055610.1:p.Gln269*
NP_001165124.1:p.Gln245Ter
Position
Human AssemblyChrPosition (strand)Source
GRCh382144,403,918 - 144,403,918CLINVAR
GRCh372145,161,485 - 145,161,485CLINVAR
Cytogenetic Map22q22.3CLINVAR
Age Of Onset: antenatal|neonatal/infancy



Disease Annotations
References - curated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8642555
Created: 2014-05-13
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.