Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV383754 (GRCh37/hg19 14q32.32-32.33(chr14:103711336-107285437)x1) Homo sapiens

Symbol: CV383754
Name: GRCh37/hg19 14q32.32-32.33(chr14:103711336-107285437)x1
Condition: See cases [RCV000446081]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: ADSS1   AHNAK2   AKT1   ASPG   ATP5MPL   BAG5   BRF1   BTBD6   C14orf180   CDCA4   CEP170B   CKB   CLBA1   COA8   CRIP1   CRIP2   EIF5   GPR132   IGH   IGHA1   IGHA2   IGHD   IGHD3-3   IGHE   IGHG1   IGHG2   IGHG3   IGHG4   IGHM   IGHV3-23   INF2   JAG2   KIF26A   KLC1   MARK3   MIR203A   MTA1   NUDT14   PACS2   PLD4   PPP1R13B   RD3L   SIVA1   TDRD9   TEDC1   TEX22   TMEM121   TMEM179   TRMT61A   XRCC3   ZBTB42   ZFYVE21  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh3714103,711,336 - 107,285,437CLINVAR
Cytogenetic Map1414q32.32-32.33CLINVAR

Additional Information

External Database Links
RGD Object Information
RGD ID: 12850809
Created: 2017-04-11
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.