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Variant : CV359269 (NM_014795.4(ZEB2):c.2100C>G (p.Tyr700Ter)) Homo sapiens

Symbol: CV359269
Name: NM_014795.4(ZEB2):c.2100C>G (p.Tyr700Ter)
Condition: not provided [RCV000413462]
Clinical Significance: pathogenic
Last Evaluated: 10/25/2016
Review Status: criteria provided, single submitter
Related Genes: ZEB2  
Variant Type: single nucleotide variant (SO:0001587)
Source: CLINVAR
Molecular Consequence: nonsense
Evidence: clinical testing
HGVS Name(s): NG_016431.1:g.126305C>G
NC_000002.12:g.144399087G>C
NC_000002.11:g.145156654G>C
NP_055610.1:p.Tyr700Ter
NM_001171653.2:c.2028C>G
NM_014795.4:c.2100C>G
NP_001165124.1:p.Tyr676Ter
NM_014795.3:c.2100C>G
Position
Human AssemblyChrPosition (strand)Source
GRCh382144,399,087 - 144,399,087CLINVAR
GRCh372145,156,654 - 145,156,654CLINVAR
Cytogenetic Map22q22.3CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12742347
Created: 2017-02-07
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.