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Variant : CV481605 (NM_014795.4(ZEB2):c.3206C>A (p.Ser1069Ter)) Homo sapiens

Symbol: CV481605
Name: NM_014795.4(ZEB2):c.3206C>A (p.Ser1069Ter)
Condition: not provided [RCV000579115]
Clinical Significance: pathogenic
Last Evaluated: 11/24/2017
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): NC_000002.12:g.144389890G>T
NC_000002.11:g.145147457G>T
NP_055610.1:p.Ser1069Ter
NG_016431.1:g.135502C>A
NM_001171653.2:c.3134C>A
NM_014795.3:c.3206C>A
NP_001165124.1:p.Ser1045Ter
NM_014795.4:c.3206C>A
Position
Human AssemblyChrPosition (strand)Source
GRCh382144,389,890 - 144,389,890CLINVAR
GRCh372145,147,457 - 145,147,457CLINVAR
Cytogenetic Map22q22.3CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13509167
Created: 2018-03-06
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.