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Variant : CV158377 (GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3) Homo sapiens

Symbol: CV158377
Name: GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3
Condition: See cases [RCV000137694]
Clinical Significance: pathogenic
Last Evaluated: 08/29/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: A2M   A2M-AS1   A2ML1   ACRBP   ACSM4   AICDA   AKAP3   ANO2   APOBEC1   APOLD1   ARHGDIB   ART4   ATF7IP   ATN1   BCL2L14   BORCS5   C12orf4   C12orf57   C12orf60   C1R   C1RL   C1RL-AS1   C1S   C3AR1   CCND2   CCND2-AS1   CD163   CD163L1   CD27   CD27-AS1   CD4   CD69   CD9   CDCA3   CDKN1B   CHD4   CLEC12A   CLEC12A-AS1   CLEC12B   CLEC1A   CLEC1B   CLEC2A   CLEC2B   CLEC2D   CLEC4A   CLEC4C   CLEC4D   CLEC4E   CLEC6A   CLEC7A   CLEC9A   CLECL1   CLSTN3   COPS7A   CRACR2A   CREBL2   DDX47   DPPA3   DUSP16   DYRK4   EIF2S3B   EMG1   EMP1   ENO2   ERP27   ETV6   FAM234B   FAM66C   FAM90A1   FGF23   FGF6   FOXJ2   FOXM1   GABARAPL1   GALNT8   GAPDH   GAU1   GDF3   GNB3   GPR162   GPR19   GPRC5A   GPRC5D   GPRC5D-AS1   GRIN2B   GSG1   GUCY2C   H2AJ   H4-16   HEBP1   IFFO1   ING4   KCNA1   KCNA5   KCNA6   KLRB1   KLRC1   KLRC2   KLRC3   KLRC4   KLRC4-KLRK1   KLRD1   KLRF1   KLRF2   KLRG1   KLRK1   KLRK1-AS1   LAG3   LINC00612   LINC00937   LINC00987   LINC01252   LINC01559   LINC02366   LINC02367   LINC02417   LINC02443   LINC02446   LINC02449   LINC02470   LINC02617   LINC02827   LOH12CR2   LPAR5   LPCAT3   LRP6   LRRC23   LTBR   M6PR   MAGOHB   MANSC1   MFAP5   MGP   MIR1244-3   MIR1244-4   MIR141   MIR200C   MIR200CHG   MIR613   MIR614   MLF2   MRPL51   NANOG   NANOGNB   NCAPD2   NDUFA9   NECAP1   NOP2   NTF3   OLR1   P3H3   PARP11   PARP11-AS1   PDE6H   PEX5   PHB2   PHC1   PIANP   PLBD1   PLBD1-AS1   PLEKHG6   PRB1   PRB2   PRB3   PRB4   PRH1   PRH2   PRMT8   PRR4   PTMS   PTPN6   PZP   RAD51AP1   RBP5   RHNO1   RIMKLB   RNU7-1   SCARNA10   SCARNA11   SCARNA12   SCNN1A   SLC2A14   SLC2A3   SMCO3   SMIM10L1   SNORA120   SPSB2   STYK1   TAPBPL   TAS2R10   TAS2R13   TAS2R14   TAS2R19   TAS2R20   TAS2R30   TAS2R31   TAS2R42   TAS2R43   TAS2R46   TAS2R50   TAS2R7   TAS2R8   TAS2R9   TEAD4   TIGAR   TMEM52B   TNFRSF1A   TPI1   TSPAN9   TULP3   USP5   VAMP1   VWF   WBP11   YBX3   ZNF384   ZNF705A  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000012.12:g.(?_2871741)_(14987348_?)dup
NC_000012.11:g.(?_2980907)_(15140282_?)dup
NC_000012.10:g.(?_2851168)_(15031549_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38122,871,741 - 14,987,348CLINVAR
GRCh37122,980,907 - 15,140,282CLINVAR
Build 36122,851,168 - 15,031,549CLINVAR
Cytogenetic Map1212p13.33-12.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9485246
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-05-19
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.