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Variant : CV614119 (GRCh37/hg19 14q32.2-32.31(chr14:99737888-101847855)) Homo sapiens

Symbol: CV614119
Name: GRCh37/hg19 14q32.2-32.31(chr14:99737888-101847855)
Condition: not provided [RCV000767823]
Clinical Significance: likely pathogenic
Last Evaluated: 11/01/2018
Review Status: criteria provided, single submitter
Related Genes: BEGAIN   CCDC85C   CCNK   CYP46A1   DEGS2   DLK1   EML1   EVL   HHIPL1   MEG3   MEG8   MIR127   MIR134   MIR136   MIR369   MIR370   MIR376A1   MIR376A2   MIR376B   MIR376C   MIR380   MIR409   MIR410   MIR431   MIR433   MIR487B   MIR495   RTL1   SETD3   SLC25A29   SLC25A47   SNORD112   SNORD113-1   SNORD114-1   WARS1   WDR25   YY1  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh371499,737,888 - 101,847,855CLINVAR
Cytogenetic Map1414q32.2-32.31CLINVAR

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 14399771
Created: 2019-05-07
Species: Homo sapiens
Last Modified: 2020-02-20
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.