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Variant : CV489517 (NM_014795.4(ZEB2):c.508A>G (p.Ser170Gly)) Homo sapiens

Symbol: CV489517
Name: NM_014795.4(ZEB2):c.508A>G (p.Ser170Gly)
Condition: not specified [RCV000595398]
Clinical Significance: uncertain significance
Last Evaluated: 11/28/2016
Review Status: criteria provided, single submitter
Related Genes: ZEB2  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NC_000002.11:g.145162487T>C
NC_000002.12:g.144404920T>C
NG_016431.1:g.120472A>G
NP_055610.1:p.Ser170Gly
NM_001171653.2:c.436A>G
NM_014795.4:c.508A>G
NG_056148.1:g.525T>C
NP_001165124.1:p.Ser146Gly
Position
Human AssemblyChrPosition (strand)Source
GRCh382144,404,920 - 144,404,920CLINVAR
GRCh372145,162,487 - 145,162,487CLINVAR
Cytogenetic Map22q22.3CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13516333
Created: 2018-04-10
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.