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Variant : CV179000 (NM_014795.4(ZEB2):c.768C>T (p.Leu256=)) Homo sapiens

Symbol: CV179000
Name: NM_014795.4(ZEB2):c.768C>T (p.Leu256=)
Condition: Mowat-Wilson syndrome [RCV000159442]|not specified [RCV000159442]
Clinical Significance: benign
Last Evaluated: 07/18/2014
Review Status: classified by single submitter|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.121437C>T
NC_000002.12:g.144403955G>A
NC_000002.11:g.145161522G>A
NP_055610.1:p.Leu256=
NM_001171653.2:c.696C>T
NM_014795.3:c.768C>T
NP_001165124.1:p.Leu232=
NM_014795.4:c.768C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh382144,403,955 - 144,403,955CLINVAR
GRCh372145,161,522 - 145,161,522CLINVAR
Cytogenetic Map22q22.3CLINVAR
Trait Synonyms: AllHighlyPenetrant
Age Of Onset: antenatal|neonatal/infancy



Disease Annotations
References - curated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9833638
Created: 2015-03-10
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.