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Variant : CV71692 (GRCh38/hg38 19q13.32(chr19:45595873-46600026)x1) Homo sapiens

Symbol: CV71692
Name: GRCh38/hg38 19q13.32(chr19:45595873-46600026)x1
Condition: See cases [RCV000050710]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AC006262.1   CCDC61   CCDC8   DM1-AS   DMPK   DMWD   EML2   EML2-AS1   FBXO46   FOXA3   GIPR   GPR4   HIF3A   IGFL1   IGFL2   IGFL2-AS1   IGFL3   IGFL4   IRF2BP1   MEIOSIN   MIR330   MIR642A   MIR642B   MIR769   MYPOP   NANOS2   NOVA2   PGLYRP1   PNMA8A   PNMA8B   PPP5C   PPP5D1   QPCTL   RSPH6A   SIX5   SNRPD2   SYMPK  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000019.10:g.(?_45595873)_(46600026_?)del
Human AssemblyChrPosition (strand)Source
GRCh381945,595,873 - 46,600,026CLINVAR
GRCh371946,099,131 - 47,103,283CLINVAR
Build 361950,790,971 - 51,795,123CLINVAR
Cytogenetic Map1919q13.32CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 8617800
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-07-28
Status: ACTIVE


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