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Variant : CV178984 (NM_014795.4(ZEB2):c.1921del (p.Ser641fs)) Homo sapiens

Symbol: CV178984
Name: NM_014795.4(ZEB2):c.1921del (p.Ser641fs)
Condition: Mowat-Wilson syndrome [RCV000159493]
Clinical Significance: pathogenic
Last Evaluated: 06/18/2013
Review Status: classified by single submitter|criteria provided, single submitter
Related Genes: ZEB2  
Variant Type: deletion (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: clinical testing
HGVS Name(s): NM_014795.3:c.1919delT
p.S641LfsX5
NC_000002.11:g.145156835del
NM_014795.3:c.1921delT
NM_001171653.2:c.1849del
NM_014795.4:c.1921del
NG_016431.1:g.126126del
NC_000002.12:g.144399268del
NP_001165124.1:p.Ser617fs
NP_055610.1:p.Ser641fs
Position
Human AssemblyChrPosition (strand)Source
GRCh382144,399,266 - 144,399,266CLINVAR
GRCh372145,156,833 - 145,156,833CLINVAR
Cytogenetic Map22q22.3CLINVAR
Age Of Onset: antenatal|neonatal/infancy



Disease Annotations
References - curated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9833684
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.