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Variant : CV556364 (GRCh37/hg19 1q21.3(chr1:150853044-154647786)x3) Homo sapiens

Symbol: CV556364
Name: GRCh37/hg19 1q21.3(chr1:150853044-154647786)x3
Condition: not provided [RCV000684655]
Clinical Significance: pathogenic
Last Evaluated: 04/23/2018
Review Status: no assertion criteria provided
Related Genes: ADAR   ANXA9   AQP10   ATP8B2   BNIPL   C1orf189   C1orf43   C1orf56   C1orf68   C2CD4D   CDC42SE1   CELF3   CERS2   CGN   CHRNB2   CHTOP   CRCT1   CREB3L4   CRNN   CRTC2   DENND4B   FLG   FLG2   GABPB2   GATAD2B   HAX1   HRNR   IL6R   ILF2   INTS3   IVL   JTB   KPRP   LCE1A   LCE1B   LCE1C   LCE1D   LCE1E   LCE1F   LCE2A   LCE2B   LCE2C   LCE2D   LCE3A   LCE3B   LCE3C   LCE3D   LCE3E   LCE4A   LCE5A   LCE6A   LELP1   LINGO4   LORICRIN   LYSMD1   MINDY1   MLLT11   MRPL9   NPR1   NUP210L   OAZ3   PGLYRP3   PGLYRP4   PI4KB   PIP5K1A   POGZ   PRR9   PRUNE1   PSMB4   PSMD4   RAB13   RFX5   RIIAD1   RORC   RPS27   RPTN   S100A1   S100A10   S100A11   S100A12   S100A13   S100A14   S100A16   S100A2   S100A3   S100A4   S100A5   S100A6   S100A7   S100A7A   S100A8   S100A9   SCNM1   SELENBP1   SEMA6C   SETDB1   SHE   SLC27A3   SLC39A1   SMCP   SNAPIN   SNX27   SPRR1A   SPRR1B   SPRR2A   SPRR2B   SPRR2D   SPRR2E   SPRR2F   SPRR2G   SPRR3   SPRR4   TCHH   TCHHL1   TDRD10   TDRKH   THEM4   THEM5   TMOD4   TNFAIP8L2   TPM3   TUFT1   UBAP2L   UBE2Q1   VPS72   ZNF687  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh371150,853,044 - 154,647,786CLINVAR
Cytogenetic Map11q21.3CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13798897
Created: 2018-10-09
Species: Homo sapiens
Last Modified: 2019-11-05
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.