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Variant : CV284514 (NM_014795.4(ZEB2):c.*116G>A) Homo sapiens

Symbol: CV284514
Name: NM_014795.4(ZEB2):c.*116G>A
Condition: Mowat-Wilson syndrome [RCV000266282]
Clinical Significance: uncertain significance
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.136057G>A
NC_000002.12:g.144389335C>T
NC_000002.11:g.145146902C>T
NM_001171653.2:c.*116G>A
NM_014795.4:c.*116G>A
NM_014795.3:c.*116G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh382144,389,335 - 144,389,335CLINVAR
GRCh372145,146,902 - 145,146,902CLINVAR
Cytogenetic Map22q22.3CLINVAR
Age Of Onset: antenatal



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11645566
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.