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Variant : CV281984 (NM_014795.4(ZEB2):c.297C>T (p.Asn99=)) Homo sapiens

Symbol: CV281984
Name: NM_014795.4(ZEB2):c.297C>T (p.Asn99=)
Condition: Mowat-Wilson syndrome [RCV000260737]|not specified [RCV000433176]
Clinical Significance: benign|likely benign
Last Evaluated: 10/11/2017
Review Status: criteria provided, multiple submitters, no conflicts|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.95589C>T
NC_000002.12:g.144429803G>A
NC_000002.11:g.145187370G>A
NP_055610.1:p.Asn99=
NM_001171653.2:c.297C>T
NM_014795.4:c.297C>T
NM_014795.3:c.297C>T
NP_001165124.1:p.Asn99=
Position
Human AssemblyChrPosition (strand)Source
GRCh382144,429,803 - 144,429,803CLINVAR
GRCh372145,187,370 - 145,187,370CLINVAR
Cytogenetic Map22q22.3CLINVAR
Trait Synonyms: AllHighlyPenetrant
Age Of Onset: antenatal



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11577463
Created: 2017-01-11
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.