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Variant : CV554068 (GRCh37/hg19 4p16.3-15.1(chr4:4165334-33324781)x1) Homo sapiens

Symbol: CV554068
Name: GRCh37/hg19 4p16.3-15.1(chr4:4165334-33324781)x1
Condition: not provided [RCV000682373]
Clinical Significance: pathogenic
Last Evaluated: 11/16/2017
Review Status: no assertion criteria provided
Related Genes: ABLIM2   ACOX3   ADGRA3   AFAP1   ANAPC4   BLOC1S4   BOD1L1   BST1   C1QTNF7   C4orf50   CC2D2A   CCDC149   CCDC96   CCKAR   CD38   CLNK   CLRN2   CPEB2   CPZ   CRMP1   CYTL1   DCAF16   DEFB131A   DHX15   DRD5   EVC   EVC2   FAM184B   FAM200B   FBXL5   FGFBP1   FGFBP2   GBA3   GPR78   GRPEL1   HMX1   HS3ST1   HTRA3   JAKMIP1   KCNIP4   KIAA0232   LAP3   LCORL   LDB2   LGI2   LINC01587   LYAR   MAN2B2   MED28   MIR95   MRFAP1   MRFAP1L1   MSX1   NCAPG   NKX3-2   NSG1   OTOP1   PACRGL   PCDH7   PI4K2B   PPARGC1A   PPP2R2C   PROM1   PSAPL1   QDPR   RAB28   RBPJ   S100P   SEL1L3   SEPSECS   SH3TC1   SLC2A9   SLC34A2   SLIT2   SMIM20   SOD3   SORCS2   STIM2   STK32B   STX18   TADA2B   TAPT1   TBC1D14   TBC1D19   TMEM128   TRMT44   USP17L10   USP17L11   USP17L12   USP17L13   USP17L15   USP17L17   USP17L18   USP17L19   USP17L20   USP17L21   USP17L22   USP17L24   USP17L25   USP17L26   USP17L27   USP17L28   USP17L29   USP17L30   USP17L5   WDR1   WFS1   ZBTB49   ZCCHC4   ZNF518B  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh3744,165,334 - 33,324,781CLINVAR
Cytogenetic Map44p16.3-15.1CLINVAR

Additional Information

External Database Links
RGD Object Information
RGD ID: 13795211
Created: 2018-10-09
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.