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Variant : CV557567 (NM_014795.4(ZEB2):c.236_239del (p.Leu78_Leu79insTer)) Homo sapiens

Symbol: CV557567
Name: NM_014795.4(ZEB2):c.236_239del (p.Leu78_Leu79insTer)
Condition: Mowat-Wilson syndrome [RCV000690460]
Clinical Significance: pathogenic
Last Evaluated: 03/22/2018
Review Status: criteria provided, single submitter
Related Genes: ZEB2  
Variant Type: deletion (SO:0001587)
Source: CLINVAR
Molecular Consequence: frameshift variant|nonsense
Evidence: clinical testing
HGVS Name(s): NG_016431.1:g.95528_95531del
NC_000002.12:g.144429861_144429864del
NC_000002.11:g.145187428_145187431del
NM_001171653.2:c.236_239del
NM_014795.4:c.236_239del
NM_014795.3:c.236_239delTGCC
NP_001165124.1:p.Leu78_Leu79insTer
NP_055610.1:p.Leu78_Leu79insTer
Position
Human AssemblyChrPosition (strand)Source
GRCh382144,429,861 - 144,429,864CLINVAR
GRCh372145,187,428 - 145,187,431CLINVAR
Cytogenetic Map22q22.3CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13813872
Created: 2018-11-06
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.