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Variant : CV421273 (NM_014795.4(ZEB2):c.351dup (p.Asp118Ter)) Homo sapiens

Symbol: CV421273
Name: NM_014795.4(ZEB2):c.351dup (p.Asp118Ter)
Condition: not provided [RCV000494262]
Clinical Significance: pathogenic
Last Evaluated: 05/05/2017
Review Status: criteria provided, single submitter|no assertion criteria provided
Related Genes: ZEB2  
Variant Type: duplication (SO:0001627)
Source: CLINVAR
Molecular Consequence: frameshift variant|intron variant
Evidence: clinical testing
HGVS Name(s): NM_014795.3:c.351dupT
NG_016431.1:g.100544dup
NC_000002.12:g.144424848dup
NC_000002.11:g.145182415dup
NM_001171653.2:c.331+4921dup
NM_014795.4:c.351dup
NP_055610.1:p.Asp118Ter
Position
Human AssemblyChrPosition (strand)Source
GRCh382144,424,848 - 144,424,848CLINVAR
GRCh372145,182,415 - 145,182,415CLINVAR
Cytogenetic Map22q22.3CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12913788
Created: 2017-07-11
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.