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Variant : CV582044 (NM_014423.4(AFF4):c.516_518dup (p.His173_Ser174insGln)) Homo sapiens

Symbol: CV582044
Name: NM_014423.4(AFF4):c.516_518dup (p.His173_Ser174insGln)
Condition: not provided [RCV000722226]
Clinical Significance: uncertain significance
Last Evaluated: 09/16/2018
Review Status: criteria provided, single submitter|no assertion criteria provided
Related Genes: AFF4  
Variant Type: duplication (SO:0001821)
Source: CLINVAR
Molecular Consequence: inframe_insertion
Evidence: research
HGVS Name(s): NM_014423.4:c.516_518dup
NG_030340.1:g.34114_34116dup
NC_000005.9:g.132270240_132270242dup
NP_055238.1:p.His173_Ser174insGln
NC_000005.10:g.132934548_132934550dup
Position
Human AssemblyChrPosition (strand)Source
GRCh385132,934,546 - 132,934,547CLINVAR
GRCh375132,270,238 - 132,270,239CLINVAR
Cytogenetic Map55q31.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13831546
Created: 2019-01-08
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.