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Variant : CV284294 (NM_014795.4(ZEB2):c.3204C>G (p.Gly1068=)) Homo sapiens

Symbol: CV284294
Name: NM_014795.4(ZEB2):c.3204C>G (p.Gly1068=)
Condition: Mowat-Wilson syndrome [RCV000260284]
Clinical Significance: likely benign
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: ZEB2  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): NG_016431.1:g.135500C>G
NC_000002.12:g.144389892G>C
NC_000002.11:g.145147459G>C
NP_055610.1:p.Gly1068=
NM_001171653.2:c.3132C>G
NM_014795.4:c.3204C>G
NM_014795.3:c.3204C>G
NP_001165124.1:p.Gly1044=
Position
Human AssemblyChrPosition (strand)Source
GRCh382144,389,892 - 144,389,892CLINVAR
GRCh372145,147,459 - 145,147,459CLINVAR
Cytogenetic Map22q22.3CLINVAR
Age Of Onset: antenatal



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11577436
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.