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

Variant : CV495114 (NM_014795.4(ZEB2):c.3213dup (p.Gln1072fs)) Homo sapiens

Symbol: CV495114
Name: NM_014795.4(ZEB2):c.3213dup (p.Gln1072fs)
Condition: not provided [RCV000599301]
Clinical Significance: pathogenic
Last Evaluated: 02/21/2018
Review Status: criteria provided, single submitter
Related Genes: ZEB2  
Variant Type: duplication (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: clinical testing
HGVS Name(s): NM_001171653.2:c.3141dup
NM_014795.4:c.3213dup
NP_001165124.1:p.Gln1048fs
NP_055610.1:p.Gln1072fs
NM_014795.3:c.3213dupG
NG_016431.1:g.135509dup
NC_000002.12:g.144389883dup
NC_000002.11:g.145147450dup
Position
Human AssemblyChrPosition (strand)Source
GRCh382144,389,883 - 144,389,883CLINVAR
GRCh372145,147,450 - 145,147,450CLINVAR
Cytogenetic Map22q22.3CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13521249
Created: 2018-04-10
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.