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Variant : CV162754 (GRCh38/hg38 4p16.3-15.32(chr4:4426403-17460549)x1) Homo sapiens

Symbol: CV162754
Name: GRCh38/hg38 4p16.3-15.32(chr4:4426403-17460549)x1
Condition: See cases [RCV000141502]
Clinical Significance: pathogenic
Last Evaluated: 02/04/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ABLIM2   AC097382.2   ACOX3   AFAP1   AFAP1-AS1   BLOC1S4   BOD1L1   BST1   C1QTNF7   C1QTNF7-AS1   C4orf50   CC2D2A   CCDC96   CD38   CLNK   CPEB2   CPEB2-DT   CPZ   CRMP1   CYTL1   DEFB131A   DRD5   EVC   EVC2   FAM200B   FAM90A26   FBXL5   FGFBP1   FGFBP2   GPR78   GRPEL1   HMX1   HS3ST1   HTRA3   JAKMIP1   KIAA0232   LDB2   LINC00504   LINC01085   LINC01096   LINC01097   LINC01182   LINC01396   LINC01587   LINC02270   LINC02360   LINC02447   LINC02481   LINC02482   LINC02493   LINC02495   LINC02517   LOC389199   MAN2B2   MIR12113   MIR3138   MIR378D1   MIR4274   MIR4798   MIR5091   MIR548I2   MIR572   MIR95   MRFAP1   MRFAP1L1   MSX1   NKX3-2   PPP2R2C   PROM1   PSAPL1   RAB28   S100P   SH3TC1   SLC2A9   SLC2A9-AS1   SNORA75B   SNORD162   SORCS2   STK32B   STX18   STX18-AS1   STX18-IT1   TADA2B   TAPT1   TAPT1-AS1   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
HGVS Name(s): NC_000004.12:g.(?_4426403)_(17460549_?)del
Human AssemblyChrPosition (strand)Source
GRCh3844,426,403 - 17,460,549CLINVAR
GRCh3744,428,130 - 17,462,172CLINVAR
Build 3644,479,031 - 17,071,270CLINVAR
Cytogenetic Map44p16.3-15.32CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 9489027
Created: 2014-09-09
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.