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Variant : CV178991 (NM_014795.4(ZEB2):c.1638C>T (p.Asp546=)) Homo sapiens

Symbol: CV178991
Name: NM_014795.4(ZEB2):c.1638C>T (p.Asp546=)
Condition: Mowat-Wilson syndrome [RCV000159448]|Mowat-Wilson syndrome [RCV000541730]|not specified [RCV000194412]
Clinical Significance: benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
Last Evaluated: 06/26/2017
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:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): NG_016431.1:g.125843C>T
NC_000002.12:g.144399549G>A
NC_000002.11:g.145157116G>A
NP_055610.1:p.Asp546=
NM_014795.4:c.1638C>T
NM_001171653.2:c.1566C>T
NM_014795.3:c.1638C>T
NP_001165124.1:p.Asp522=
Position
Human AssemblyChrPosition (strand)Source
GRCh382144,399,549 - 144,399,549CLINVAR
GRCh372145,157,116 - 145,157,116CLINVAR
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: 9833643
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.