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Variant : CV559208 (NM_014795.4(ZEB2):c.3025C>T (p.Gln1009Ter)) Homo sapiens

Symbol: CV559208
Name: NM_014795.4(ZEB2):c.3025C>T (p.Gln1009Ter)
Condition: Mowat-Wilson syndrome [RCV000693407]
Clinical Significance: pathogenic
Last Evaluated: 04/01/2018
Review Status: criteria provided, single submitter
Related Genes: ZEB2  
Variant Type: single nucleotide variant (SO:0001587)
Source: CLINVAR
Molecular Consequence: nonsense
Evidence: clinical testing
HGVS Name(s): NG_016431.1:g.128938C>T
NC_000002.12:g.144396454G>A
NC_000002.11:g.145154021G>A
NP_055610.1:p.Gln1009Ter
NM_001171653.2:c.2953C>T
NM_014795.4:c.3025C>T
NM_014795.3:c.3025C>T
NP_001165124.1:p.Gln985Ter
Position
Human AssemblyChrPosition (strand)Source
GRCh382144,396,454 - 144,396,454CLINVAR
GRCh372145,154,021 - 145,154,021CLINVAR
Cytogenetic Map22q22.3CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13817990
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.