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Variant : CV178977 (NM_014795.4(ZEB2):c.2365T>C (p.Ser789Pro)) Homo sapiens

Symbol: CV178977
Name: NM_014795.4(ZEB2):c.2365T>C (p.Ser789Pro)
Condition: Mowat-Wilson syndrome [RCV000159479]|not specified [RCV000159479]
Clinical Significance: uncertain significance
Last Evaluated: 05/22/2014
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): NG_016431.1:g.126570T>C
NC_000002.12:g.144398822A>G
NC_000002.11:g.145156389A>G
NP_055610.1:p.Ser789Pro
NM_001171653.2:c.2293T>C
NM_014795.4:c.2365T>C
NM_014795.3:c.2365T>C
NP_001165124.1:p.Ser765Pro
Position
Human AssemblyChrPosition (strand)Source
GRCh382144,398,822 - 144,398,822CLINVAR
GRCh372145,156,389 - 145,156,389CLINVAR
Cytogenetic Map22q22.3CLINVAR
Age Of Onset: antenatal|neonatal/infancy



Disease Annotations
References - curated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9833670
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.