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Variant : CV578930 (NM_014795.4(ZEB2):c.2426A>T (p.Glu809Val)) Homo sapiens

Symbol: CV578930
Name: NM_014795.4(ZEB2):c.2426A>T (p.Glu809Val)
Condition: History of neurodevelopmental disorder [RCV000720201]|Neurodevelopmental [RCV000720201]
Clinical Significance: uncertain significance
Last Evaluated: 06/07/2016
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): NM_001171653.2:c.2354A>T
NM_014795.4:c.2426A>T
NM_014795.3:c.2426A>T
NP_001165124.1:p.Glu785Val
NC_000002.11:g.145156328T>A
NP_055610.1:p.Glu809Val
NG_016431.1:g.126631A>T
NC_000002.12:g.144398761T>A
Position
Human AssemblyChrPosition (strand)Source
GRCh382144,398,761 - 144,398,761CLINVAR
GRCh372145,156,328 - 145,156,328CLINVAR
Cytogenetic Map22q22.3CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13830449
Created: 2018-12-06
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.