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

Variant : CV628457 (NM_014795.4(ZEB2):c.855_856AG[1] (p.Glu286fs)) Homo sapiens

Symbol: CV628457
Name: NM_014795.4(ZEB2):c.855_856AG[1] (p.Glu286fs)
Condition: Mowat-Wilson syndrome [RCV000794838]
Clinical Significance: pathogenic
Last Evaluated: 09/20/2018
Review Status: criteria provided, single submitter
Related Genes: ZEB2  
Variant Type: microsatellite (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: clinical testing
HGVS Name(s): NM_001171653.2:c.783_784AG[1]
NM_014795.4:c.855_856AG[1]
NG_016431.1:g.124132_124133AG[1]
NC_000002.12:g.144401257_144401258CT[1]
NC_000002.11:g.145158824_145158825CT[1]
NM_014795.3:c.857_858delAG
NP_001165124.1:p.Glu262fs
NP_055610.1:p.Glu286fs
Position
Human AssemblyChrPosition (strand)Source
GRCh382144,401,257 - 144,401,258CLINVAR
GRCh372145,158,824 - 145,158,825CLINVAR
Cytogenetic Map22q22.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14715577
Created: 2019-09-06
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.