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Variant : CV178970 (NM_014795.4(ZEB2):c.2870G>A (p.Arg957Gln)) Homo sapiens

Symbol: CV178970
Name: NM_014795.4(ZEB2):c.2870G>A (p.Arg957Gln)
Condition: Mowat-Wilson syndrome [RCV000159484]|Mowat-Wilson syndrome [RCV000701368]|not provided [RCV000167559]|not specified [RCV000159484]
Clinical Significance: likely benign|uncertain significance
Last Evaluated: 06/19/2018
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
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.127075G>A
NC_000002.12:g.144398317C>T
NC_000002.11:g.145155884C>T
NP_055610.1:p.Arg957Gln
NM_001171653.2:c.2798G>A
NM_014795.4:c.2870G>A
NM_014795.3:c.2870G>A
NP_001165124.1:p.Arg933Gln
Position
Human AssemblyChrPosition (strand)Source
GRCh382144,398,317 - 144,398,317CLINVAR
GRCh372145,155,884 - 145,155,884CLINVAR
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: 9833675
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.