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Variant : CV178988 (NM_014795.4(ZEB2):c.1735A>G (p.Thr579Ala)) Homo sapiens

Symbol: CV178988
Name: NM_014795.4(ZEB2):c.1735A>G (p.Thr579Ala)
Condition: Mowat-Wilson syndrome [RCV000159475]|Mowat-Wilson syndrome [RCV000458090]|not specified [RCV000159475]
Clinical Significance: likely benign|conflicting interpretations of pathogenicity|uncertain significance
Last Evaluated: 08/30/2017
Review Status: classified by single submitter|criteria provided, conflicting interpretations|criteria provided, multiple submitters, no conflicts|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.125940A>G
NC_000002.12:g.144399452T>C
NC_000002.11:g.145157019T>C
NP_055610.1:p.Thr579Ala
NM_001171653.2:c.1663A>G
NM_014795.4:c.1735A>G
NM_014795.3:c.1735A>G
NP_001165124.1:p.Thr555Ala
Position
Human AssemblyChrPosition (strand)Source
GRCh382144,399,452 - 144,399,452CLINVAR
GRCh372145,157,019 - 145,157,019CLINVAR
Cytogenetic Map22q22.3CLINVAR
Trait Synonyms: AllHighlyPenetrant
Age Of Onset: antenatal|neonatal/infancy



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9833666
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.