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Variant : CV802739 (GRCh37/hg19 4p16.2-15.32(chr4:5914109-17264668)x1) Homo sapiens

Symbol: CV802739
Name: GRCh37/hg19 4p16.2-15.32(chr4:5914109-17264668)x1
Condition: not provided [RCV001005519]
Clinical Significance: likely pathogenic
Last Evaluated: 03/13/2019
Review Status: no assertion criteria provided
Related Genes: ABLIM2   ACOX3   AFAP1   BLOC1S4   BOD1L1   BST1   C1QTNF7   C4orf50   CC2D2A   CCDC96   CD38   CLNK   CPEB2   CPZ   DEFB131A   DRD5   FAM200B   FBXL5   FGFBP1   FGFBP2   GPR78   GRPEL1   HMX1   HS3ST1   HTRA3   JAKMIP1   KIAA0232   LDB2   MAN2B2   MIR95   MRFAP1   MRFAP1L1   NKX3-2   PPP2R2C   PROM1   PSAPL1   RAB28   S100P   SH3TC1   SLC2A9   SORCS2   TADA2B   TAPT1   TBC1D14   TRMT44   USP17L10   USP17L11   USP17L12   USP17L13   USP17L15   USP17L17   USP17L18   USP17L19   USP17L20   USP17L21   USP17L22   USP17L24   USP17L25   USP17L26   USP17L27   USP17L28   USP17L29   USP17L30   USP17L5   WDR1   WFS1   ZNF518B  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh3745,914,109 - 17,264,668CLINVAR
Cytogenetic Map44p16.2-15.32CLINVAR

Additional Information

External Database Links
RGD Object Information
RGD ID: 25315182
Created: 2020-04-07
Species: Homo sapiens
Last Modified: 2020-07-07
Status: ACTIVE


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