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Variant : CV178962 (NM_014795.4(ZEB2):c.3337T>A (p.Leu1113Met)) Homo sapiens

Symbol: CV178962
Name: NM_014795.4(ZEB2):c.3337T>A (p.Leu1113Met)
Condition: Mowat-Wilson syndrome [RCV000159487]|not specified [RCV000159487]
Clinical Significance: likely benign|uncertain significance
Last Evaluated: 07/17/2015
Review Status: classified by single submitter|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.3265T>A
NM_014795.4:c.3337T>A
NM_014795.3:c.3337T>A
NP_001165124.1:p.Leu1089Met
NG_016431.1:g.135633T>A
NC_000002.12:g.144389759A>T
NC_000002.11:g.145147326A>T
NP_055610.1:p.Leu1113Met
NM_014795.2:c.3337T>A
Position
Human AssemblyChrPosition (strand)Source
GRCh382144,389,759 - 144,389,759CLINVAR
GRCh372145,147,326 - 145,147,326CLINVAR
Cytogenetic Map22q22.3CLINVAR
Trait Synonyms: AllHighlyPenetrant
Age Of Onset: antenatal|neonatal/infancy



Disease Annotations
References - curated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9833678
Created: 2015-03-10
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.