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Variant : CV557518 (NM_014795.4(ZEB2):c.2354C>G (p.Pro785Arg)) Homo sapiens

Symbol: CV557518
Name: NM_014795.4(ZEB2):c.2354C>G (p.Pro785Arg)
Condition: Mowat-Wilson syndrome [RCV000696287]
Clinical Significance: uncertain significance
Last Evaluated: 03/15/2018
Review Status: 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.2282C>G
NM_014795.3:c.2354C>G
NP_001165124.1:p.Pro761Arg
NG_016431.1:g.126559C>G
NC_000002.12:g.144398833G>C
NC_000002.11:g.145156400G>C
NP_055610.1:p.Pro785Arg
NM_014795.4:c.2354C>G
Position
Human AssemblyChrPosition (strand)Source
GRCh382144,398,833 - 144,398,833CLINVAR
GRCh372145,156,400 - 145,156,400CLINVAR
Cytogenetic Map22q22.3CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13821710
Created: 2018-11-06
Species: Homo sapiens
Last Modified: 2019-11-12
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.