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Variant : CV498668 (NM_014795.4(ZEB2):c.384C>T (p.Thr128=)) Homo sapiens

Symbol: CV498668
Name: NM_014795.4(ZEB2):c.384C>T (p.Thr128=)
Condition: not specified [RCV000616799]
Clinical Significance: likely benign
Last Evaluated: 01/04/2018
Review Status: criteria provided, single submitter
Related Genes: ZEB2  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NM_001171653.2:c.331+4954C>T
NM_014795.4:c.384C>T
NG_016431.1:g.100577C>T
NC_000002.12:g.144424815G>A
NC_000002.11:g.145182382G>A
NP_055610.1:p.Thr128=
NM_014795.3:c.384C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh382144,424,815 - 144,424,815CLINVAR
GRCh372145,182,382 - 145,182,382CLINVAR
Cytogenetic Map22q22.3CLINVAR
Trait Synonyms: AllHighlyPenetrant




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13541902
Created: 2018-05-08
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.