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Variant : CV614115 (GRCh37/hg19 12p13.33-13.31(chr12:189216-8185497)) Homo sapiens

Symbol: CV614115
Name: GRCh37/hg19 12p13.33-13.31(chr12:189216-8185497)
Condition: not provided [RCV000767819]
Clinical Significance: pathogenic
Last Evaluated: 11/01/2018
Review Status: criteria provided, single submitter
Related Genes: ACRBP   ACSM4   ADIPOR2   AKAP3   ANO2   APOBEC1   ATN1   B4GALNT3   C12orf4   C12orf57   C1R   C1RL   C1S   CACNA1C   CACNA2D4   CCDC77   CCND2   CD163   CD163L1   CD27   CD4   CD9   CDCA3   CHD4   CLEC4C   CLSTN3   COPS7A   CRACR2A   DCP1B   DPPA3   DYRK4   EMG1   ENO2   ERC1   FBXL14   FGF23   FGF6   FKBP4   FOXJ2   FOXM1   GALNT8   GAPDH   GDF3   GNB3   GPR162   IFFO1   ING4   IQSEC3   ITFG2   KCNA1   KCNA5   KCNA6   KDM5A   LAG3   LPAR5   LPCAT3   LRRC23   LRTM2   LTBR   MIR141   MIR200C   MLF2   MRPL51   NANOG   NANOGNB   NCAPD2   NDUFA9   NINJ2   NINJ2-AS1   NOP2   NRIP2   NTF3   P3H3   PARP11   PEX5   PHB2   PIANP   PLEKHG6   PRMT8   PTMS   PTPN6   RAD51AP1   RAD52   RBP5   RHNO1   SCNN1A   SLC2A14   SLC2A3   SLC6A12   SLC6A13   SPSB2   TAPBPL   TEAD4   TIGAR   TNFRSF1A   TPI1   TSPAN9   TULP3   USP5   VAMP1   VWF   WNK1   WNT5B   ZNF384  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh3712189,216 - 8,185,497CLINVAR
Cytogenetic Map1212p13.33-13.31CLINVAR

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 14399768
Created: 2019-05-07
Species: Homo sapiens
Last Modified: 2020-01-14
Status: ACTIVE


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