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Variant : CV196022 (NM_014795.4(ZEB2):c.1927_1934delinsGG (p.Lys643_Met645delinsGly)) Homo sapiens

Symbol: CV196022
Name: NM_014795.4(ZEB2):c.1927_1934delinsGG (p.Lys643_Met645delinsGly)
Condition: not specified [RCV000180321]
Clinical Significance: uncertain significance
Last Evaluated: 09/08/2014
Review Status: criteria provided, single submitter
Related Genes: ZEB2  
Variant Type: indel (SO:0001820)
Source: CLINVAR
Molecular Consequence: inframe_indel|inframe_variant
Evidence: clinical testing
HGVS Name(s): NP_055610.1:p.Lys643_Met645delinsGly
NC_000002.12:g.144399253_144399260delinsCC
NM_001171653.2:c.1855_1862delinsGG
NM_014795.4:c.1927_1934delinsGG
NG_016431.1:g.126132_126139delinsGG
NC_000002.11:g.145156820_145156827delinsCC
NM_014795.3:c.1927_1934delAAAGGAATinsGG
NP_001165124.1:p.Lys619_Met621delinsGly
Position
Human AssemblyChrPosition (strand)Source
GRCh382144,399,253 - 144,399,260CLINVAR
GRCh372145,156,820 - 145,156,827CLINVAR
Cytogenetic Map22q22.3CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 10053263
Created: 2015-07-14
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.