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Variant : CV803016 (GRCh37/hg19 6p21.33-21.31(chr6:31036397-34088832)x3) Homo sapiens

Symbol: CV803016
Name: GRCh37/hg19 6p21.33-21.31(chr6:31036397-34088832)x3
Condition: not provided [RCV001005791]
Clinical Significance: likely pathogenic
Last Evaluated: 07/10/2018
Review Status: no assertion criteria provided
Related Genes: ABHD16A   AGER   AGPAT1   AIF1   APOM   ATF6B   ATP6V1G2   B3GALT4   BAG6   BAK1   BRD2   BTNL2   C2   C4A   C4B   C6orf15   C6orf47   CCHCR1   CDSN   CFB   CLIC1   COL11A2   CSNK2B   CUTA   CYP21A2   DAXX   DDAH2   DDX39B   DXO   EGFL8   EHMT2   FKBPL   GPANK1   GPSM3   GRM4   HCG26   HCP5   HLA-B   HLA-C   HLA-DMA   HLA-DMB   HLA-DOA   HLA-DOB   HLA-DPA1   HLA-DPB1   HLA-DQA1   HLA-DQA2   HLA-DQB1   HLA-DQB2   HLA-DRA   HLA-DRB1   HLA-DRB5   HSD17B8   HSPA1A   HSPA1B   HSPA1L   IP6K3   ITPR3   KIFC1   LEMD2   LSM2   LST1   LTA   LTB   LY6G5B   LY6G5C   LY6G6C   LY6G6D   LY6G6F   MCCD1   MICA   MICB   MIR219A1   MLN   MPIG6B   MSH5   NCR3   NELFE   NEU1   NFKBIL1   NOTCH4   PBX2   PFDN6   PHF1   POU5F1   PPT2   PRRC2A   PRRT1   PSMB8   PSMB9   PSORS1C1   PSORS1C2   RGL2   RING1   RNF5   RPS18   RXRB   SAPCD1   SKIV2L   SLC39A7   SLC44A4   SNHG32   STK19   SYNGAP1   TAP1   TAP2   TAPBP   TCF19   TNF   TNXB   TSBP1   UQCC2   VARS1   VPS52   VWA7   WDR46   ZBTB12   ZBTB22   ZBTB9  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh37631,036,397 - 34,088,832CLINVAR
Cytogenetic Map66p21.33-21.31CLINVAR

Additional Information

External Database Links
RGD Object Information
RGD ID: 25320043
Created: 2020-04-07
Species: Homo sapiens
Last Modified: 2020-06-30
Status: ACTIVE


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