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Variant : CV155775 (GRCh38/hg38 12p13.33-13.31(chr12:45740-6945196)x3) Homo sapiens

Symbol: CV155775
Name: GRCh38/hg38 12p13.33-13.31(chr12:45740-6945196)x3
Condition: See cases [RCV000135350]
Clinical Significance: pathogenic
Last Evaluated: 11/30/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ACRBP   ADIPOR2   AKAP3   ANO2   ATN1   B4GALNT3   C12orf4   C12orf57   CACNA1C   CACNA1C-AS1   CACNA1C-AS2   CACNA1C-AS4   CACNA1C-IT1   CACNA1C-IT2   CACNA1C-IT3   CACNA2D4   CCDC77   CCND2   CCND2-AS1   CD27   CD27-AS1   CD4   CD9   CDCA3   CHD4   COPS7A   CRACR2A   DCP1B   DYRK4   ENO2   ERC1   FBXL14   FGF23   FGF6   FKBP4   FOXM1   GALNT8   GAPDH   GAU1   GNB3   GPR162   IFFO1   ING4   IQSEC3   ITFG2   ITFG2-AS1   KCNA1   KCNA5   KCNA6   KDM5A   LAG3   LINC00940   LINC00942   LINC02417   LINC02443   LINC02455   LINC02827   LPAR5   LRRC23   LRTM2   LTBR   MIR3649   MLF2   MRPL51   NCAPD2   NDUFA9   NINJ2   NINJ2-AS1   NOP2   NRIP2   NTF3   P3H3   PARP11   PARP11-AS1   PIANP   PLEKHG6   PRMT8   PTMS   RAD51AP1   RAD52   RHNO1   RNU7-1   SCARNA10   SCARNA11   SCNN1A   SLC6A12   SLC6A13   SNORA120   SPSB2   TAPBPL   TEAD4   TEX52   TIGAR   TNFRSF1A   TPI1   TSPAN9   TULP3   USP5   VAMP1   VWF   WNK1   WNT5B   ZNF384  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000012.12:g.(?_45740)_(6945196_?)dup
NC_000012.11:g.(?_147099)_(7054359_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381245,740 - 6,945,196CLINVAR
GRCh3712147,099 - 7,054,359CLINVAR
Build 361217,360 - 6,924,620CLINVAR
Cytogenetic Map1212p13.33-13.31CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9482923
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-14
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.