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

Variant : CV383912 (GRCh37/hg19 11q23.3-25(chr11:119513909-134938470)x1) Homo sapiens

Symbol: CV383912
Name: GRCh37/hg19 11q23.3-25(chr11:119513909-134938470)x1
Condition: See cases [RCV000447077]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: ACAD8   ACRV1   ADAMTS15   ADAMTS8   APLP2   ARHGAP32   ARHGEF12   B3GAT1   BARX2   BLID   BSX   C11orf45   CCDC15   CDON   CHEK1   CLMP   CRTAM   DCPS   DDX25   EI24   ESAM   ETS1   FAM118B   FEZ1   FLI1   FOXRED1   GLB1L2   GLB1L3   GRAMD1B   GRIK4   HEPACAM   HEPN1   HSPA8   HYLS1   IGSF9B   JAM3   JHY   KCNJ1   KCNJ5   KIRREL3   LINC02714   LINC02743   LINC02873   MIR100   MIR125B1   MIRLET7A2   MSANTD2   NCAPD3   NECTIN1   NFRKB   NRGN   NTM   OAF   OPCML   OR10G4   OR10G7   OR10G8   OR10G9   OR10S1   OR4D5   OR6M1   OR6T1   OR6X1   OR8A1   OR8B12   OR8B2   OR8B3   OR8B4   OR8B8   OR8D1   OR8D2   OR8D4   OR8G1   OR8G2P   OR8G5   PANX3   PATE1   PATE2   PATE3   PATE4   PKNOX2   POU2F3   PRDM10   PUS3   ROBO3   ROBO4   RPUSD4   SC5D   SCN3B   SIAE   SLC37A2   SNX19   SORL1   SPA17   SPATA19   SRPRA   ST14   ST3GAL4   STT3A   TBCEL   TBRG1   TECTA   THYN1   TIRAP   TLCD5   TMEM218   TMEM225   TMEM45B   TP53AIP1   TRIM29   UBASH3B   VPS26B   VSIG2   VWA5A   ZBTB44   ZNF202  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh3711119,513,909 - 134,938,470CLINVAR
Cytogenetic Map1111q23.3-25CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12851796
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2019-12-03
Status: ACTIVE



NHLBI Logo

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