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Variant : CV382581 (GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426)) Homo sapiens

Symbol: CV382581
Name: GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426)
Condition: See cases [RCV000446985]
Clinical Significance: pathogenic
Last Evaluated: 11/30/2010
Review Status: no assertion criteria provided
Related Genes: ACP5   ADGRE2   ADGRE3   ADGRE5   ADGRL1   ANGPTL6   ANGPTL8   AP1M2   ASF1B   ATG4D   BEST2   C19orf38   C19orf53   C19orf57   C19orf67   CACNA1A   CALR   CARM1   CC2D1A   CCDC130   CCDC151   CCDC159   CDC37   CDKN2D   CLEC17A   CNN1   COL5A3   DAND5   DCAF15   DDX39A   DHPS   DNAJB1   DNASE2   DNM2   DNMT1   DOCK6   ECSIT   EIF3G   ELAVL3   ELOF1   EPOR   FARSA   FBXL12   FBXW9   FDX2   GADD45GIP1   GCDH   GET3   GIPC1   HOOK2   ICAM1   ICAM3   ICAM4   ICAM5   IER2   IL27RA   ILF3   JUNB   KANK2   KEAP1   KLF1   KRI1   LDLR   LYL1   MAN2B1   MAST1   MIR181C   MIR199A1   MIR23A   MIR24-2   MIR27A   MRI1   MRPL4   NACC1   NANOS3   NDUFB7   NFIX   OLFM2   P2RY11   PALM3   PDE4A   PIN1   PKN1   PODNL1   PPAN   PPAN-P2RY11   PRDX2   PRKACA   PRKCSH   PTGER1   QTRT1   RAB3D   RAD23A   RAVER1   RDH8   RFX1   RGL3   RLN3   RNASEH2A   RTBDN   S1PR2   S1PR5   SAMD1   SHFL   SLC44A2   SMARCA4   SPC24   STX10   SWSAP1   SYCE2   TECR   TIMM29   TMED1   TMEM205   TNPO2   TRIR   TRMT1   TSPAN16   TYK2   UBL5   WDR83   WDR83OS   YIPF2   ZGLP1   ZNF121   ZNF136   ZNF20   ZNF333   ZNF433   ZNF439   ZNF44   ZNF440   ZNF441   ZNF442   ZNF443   ZNF490   ZNF491   ZNF561   ZNF562   ZNF563   ZNF564   ZNF625   ZNF627   ZNF653   ZNF69   ZNF700   ZNF709   ZNF763   ZNF791   ZNF799   ZNF823   ZNF844   ZNF846   ZNF878   ZSWIM4  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh37199,678,768 - 14,853,426CLINVAR
Cytogenetic Map1919p13.2-13.12CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 12851705
Created: 2017-04-11
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.