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Variant : CV486557 (GRCh37/hg19 1q21.3-23.1(chr1:153751465-156660462)x3) Homo sapiens

Symbol: CV486557
Name: GRCh37/hg19 1q21.3-23.1(chr1:153751465-156660462)x3
Condition: not provided [RCV000585385]
Clinical Significance: likely pathogenic
Last Evaluated: 10/31/2017
Review Status: criteria provided, single submitter|no assertion criteria provided
Related Genes: ADAM15   ADAR   AQP10   ARHGEF2   ASH1L   ATP8B2   BCAN   BGLAP   C1orf189   C1orf43   CCT3   CHRNB2   CKS1B   CLK2   CREB3L4   CRTC2   DAP3   DCST1   DCST2   DENND4B   DPM3   EFNA1   EFNA3   EFNA4   FAM189B   FDPS   FLAD1   GATAD2B   GBA   GLMP   GON4L   GPATCH4   HAPLN2   HAX1   HCN3   IL6R   IQGAP3   JTB   KCNN3   KHDC4   KRTCAP2   LAMTOR2   LENEP   LMNA   MEF2D   MEX3A   MIR9-1   MIR9-1HG   MSTO1   MTX1   MUC1   NAXE   NES   NUP210L   PAQR6   PBXIP1   PKLR   PMF1   PMF1-BGLAP   PMVK   PYGO2   RAB13   RAB25   RHBG   RIT1   RPS27   RUSC1   RUSC1-AS1   RXFP4   SCAMP3   SEMA4A   SHC1   SHE   SLC25A44   SLC27A3   SLC39A1   SLC50A1   SMG5   SSR2   SYT11   TDRD10   THBS3   TMEM79   TPM3   TRIM46   TSACC   TTC24   UBAP2L   UBE2Q1   UBQLN4   VHLL   YY1AP1   ZBTB7B  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh371153,751,465 - 156,660,462CLINVAR
Cytogenetic Map11q21.3-23.1CLINVAR




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13519113
Created: 2018-04-10
Species: Homo sapiens
Last Modified: 2020-06-30
Status: ACTIVE



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