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Variant : CV187150 (NM_014795.4(ZEB2):c.3391_3400del (p.Pro1131fs)) Homo sapiens

Symbol: CV187150
Name: NM_014795.4(ZEB2):c.3391_3400del (p.Pro1131fs)
Condition: Mowat-Wilson syndrome [RCV000169716]
Clinical Significance: pathogenic
Last Evaluated: 03/02/2015
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ZEB2  
Variant Type: deletion (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: clinical testing
HGVS Name(s): p.Pro1131Alafs*107
NM_001171653.2:c.3319_3328del
NM_014795.4:c.3391_3400del
NG_016431.1:g.135687_135696del
NC_000002.12:g.144389699_144389708del
NC_000002.11:g.145147266_145147275del
NM_014795.3:c.3391_3400del10
NP_001165124.1:p.Pro1107fs
NP_055610.1:p.Pro1131fs
Position
Human AssemblyChrPosition (strand)Source
GRCh382144,389,696 - 144,389,705CLINVAR
GRCh372145,147,263 - 145,147,272CLINVAR
Cytogenetic Map22q22.3CLINVAR
Age Of Onset: antenatal|neonatal/infancy



Disease Annotations
References - curated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 10041980
Created: 2015-05-12
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.