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Variant : CV559210 (NM_014795.4(ZEB2):c.2774G>A (p.Gly925Glu)) Homo sapiens

Symbol: CV559210
Name: NM_014795.4(ZEB2):c.2774G>A (p.Gly925Glu)
Condition: Mowat-Wilson syndrome [RCV000703455]
Clinical Significance: uncertain significance
Last Evaluated: 02/26/2018
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.126979G>A
NC_000002.12:g.144398413C>T
NC_000002.11:g.145155980C>T
NP_055610.1:p.Gly925Glu
NM_001171653.2:c.2702G>A
NM_014795.4:c.2774G>A
NM_014795.3:c.2774G>A
NP_001165124.1:p.Gly901Glu
Position
Human AssemblyChrPosition (strand)Source
GRCh382144,398,413 - 144,398,413CLINVAR
GRCh372145,155,980 - 145,155,980CLINVAR
Cytogenetic Map22q22.3CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13812059
Created: 2018-11-06
Species: Homo sapiens
Last Modified: 2019-12-03
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.