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Variant : CV365384 (NM_014795.4(ZEB2):c.1839C>G (p.Val613=)) Homo sapiens

Symbol: CV365384
Name: NM_014795.4(ZEB2):c.1839C>G (p.Val613=)
Condition: not specified [RCV000436900]
Clinical Significance: likely benign
Last Evaluated: 02/26/2016
Review Status: criteria provided, single submitter
Related Genes: ZEB2  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): NM_014795.3:c.1839C>G
NG_016431.1:g.126044C>G
NC_000002.12:g.144399348G>C
NC_000002.11:g.145156915G>C
NP_055610.1:p.Val613=
NM_014795.4:c.1839C>G
NP_001165124.1:p.Val589=
NM_001171653.2:c.1767C>G
Position
Human AssemblyChrPosition (strand)Source
GRCh382144,399,348 - 144,399,348CLINVAR
GRCh372145,156,915 - 145,156,915CLINVAR
Cytogenetic Map22q22.3CLINVAR
Trait Synonyms: AllHighlyPenetrant




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12843813
Created: 2017-04-11
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.