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Variant : CV281970 (NM_014795.4(ZEB2):c.*1276T>C) Homo sapiens

Symbol: CV281970
Name: NM_014795.4(ZEB2):c.*1276T>C
Condition: Mowat-Wilson syndrome [RCV000371649]
Clinical Significance: likely benign
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: ZEB2  
Variant Type: single nucleotide variant (SO:0001624)
Source: CLINVAR
Molecular Consequence: 3 prime utr variant
Evidence: clinical testing
HGVS Name(s): NG_016431.1:g.137217T>C
NC_000002.12:g.144388175A>G
NC_000002.11:g.145145742A>G
NM_001171653.2:c.*1276T>C
NM_014795.4:c.*1276T>C
NM_014795.3:c.*1276T>C
Position
Human AssemblyChrPosition (strand)Source
GRCh382144,388,175 - 144,388,175CLINVAR
GRCh372145,145,742 - 145,145,742CLINVAR
Cytogenetic Map22q22.3CLINVAR
Age Of Onset: antenatal



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11595567
Created: 2017-01-11
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.