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Variant : CV495091 (NM_014795.4(ZEB2):c.1135_1138dup (p.Ser380delinsThrTer)) Homo sapiens

Symbol: CV495091
Name: NM_014795.4(ZEB2):c.1135_1138dup (p.Ser380delinsThrTer)
Condition: not provided [RCV000599048]
Clinical Significance: pathogenic
Last Evaluated: 01/18/2018
Review Status: criteria provided, single submitter
Related Genes: ZEB2  
Variant Type: duplication (SO:0001587)
Source: CLINVAR
Molecular Consequence: frameshift variant|nonsense
Evidence: clinical testing
HGVS Name(s): NM_001171653.2:c.1063_1066dup
NM_014795.3:c.1135_1138dupCTTA
NG_016431.1:g.125340_125343dup
NP_001165124.1:p.Ser356delinsThrTer
NP_055610.1:p.Ser380delinsThrTer
NM_014795.4:c.1135_1138dup
NC_000002.12:g.144400050_144400053dup
NC_000002.11:g.145157617_145157620dup
Position
Human AssemblyChrPosition (strand)Source
GRCh382144,400,049 - 144,400,052CLINVAR
GRCh372145,157,616 - 145,157,619CLINVAR
Cytogenetic Map22q22.3CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13520943
Created: 2018-04-10
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.