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Variant : CV159795 (GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3) Homo sapiens

Symbol: CV159795
Name: GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3
Condition: See cases [RCV000138956]
Clinical Significance: pathogenic
Last Evaluated: 06/11/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ABCF1   ABT1   ACOT13   ADTRP   ALDH5A1   ARMH2   ATAT1   ATXN1   ATXN1-AS1   BLOC1S5   BLOC1S5-TXNDC5   BMP6   BTN1A1   BTN2A1   BTN2A2   BTN3A1   BTN3A2   BTN3A3   C6orf136   C6orf201   C6orf52   C6orf62   CAGE1   CAP2   CARMIL1   CASC15   CD83   CDKAL1   CDYL   CDYL-AS1   DCDC2   DEK   DHX16   DSP   DTNBP1   E2F3   ECI2   ECI2-DT   EDN1   EEF1E1   EEF1E1-BLOC1S5   ELOVL2   ELOVL2-AS1   ERVFRD-1   ERVK9-12   F13A1   FAM217A   FAM50B   FAM8A1   FARS2   GABBR1   GCM2   GCNT2   GFOD1   GMNN   GMPR   GNL1   GPLD1   GPX5   GPX6   H1-1   H1-2   H1-3   H1-4   H1-5   H1-6   H2AC1   H2AC11   H2AC12   H2AC13   H2AC14   H2AC15   H2AC16   H2AC17   H2AC4   H2AC6   H2AC7   H2AC8   H2BC1   H2BC10   H2BC11   H2BC12   H2BC13   H2BC14   H2BC15   H2BC17   H2BC3   H2BC4   H2BC5   H2BC6   H2BC7   H2BC8   H2BC9   H3C1   H3C10   H3C11   H3C12   H3C2   H3C3   H3C4   H3C6   H3C7   H3C8   H4C1   H4C11   H4C12   H4C13   H4C2   H4C3   H4C4   H4C5   H4C6   H4C7   H4C8   H4C9   HCG11   HCG14   HCG15   HCG17   HCG18   HCG4   HCG4B   HCG9   HCP5B   HDGFL1   HFE   HIVEP1   HLA-A   HLA-E   HLA-F   HLA-F-AS1   HLA-G   HMGN4   HULC   ID4   JARID2   JARID2-AS1   KAAG1   KDM1B   KIAA0319   KIF13A   KU-MEL-3   LINC00240   LINC00518   LINC00533   LINC00581   LINC01012   LINC01015   LINC01108   LINC01556   LINC01623   LINC02522   LINC02530   LINC02533   LINC02543   LINC02569   LINC02828   LINC02829   LY86   LY86-AS1   LYRM4   LYRM4-AS1   MAK   MAS1L   MBOAT1   MCUR1   MIR3143   MIR3691   MIR4639   MIR548A1   MIR548A1HG   MIR5683   MIR5689   MIR5689HG   MIR7853   MIR877   MOG   MRPS18B   MRS2   MYLIP   NBAT1   NEDD9   NHLRC1   NKAPL   NOL7   NRN1   NRSN1   NUP153   OFCC1   OR10C1   OR11A1   OR12D1   OR12D2   OR12D3   OR14J1   OR1F12   OR2B2   OR2B3   OR2B6   OR2H1   OR2H2   OR2J1   OR2J2   OR2J3   OR2W1   OR5V1   PAK1IP1   PGBD1   PHACTR1   POM121L2   PPP1R10   PPP1R11   PPP1R3G   PRL   PRPF4B   PRR3   PRSS16   PSMG4   PXDC1   RANBP9   RBM24   RIOK1   RIPOR2   RNF144B   RNF182   RNF39   RPP21   RPP40   RREB1   SCARNA27   SCGN   SIRT5   SLC17A1   SLC17A2   SLC17A3   SLC17A4   SLC22A23   SLC35B3   SMIM13   SNORD32B   SNRNP48   SOX4   SSR1   STMND1   SYCP2L   TBC1D7   TDP2   TFAP2A   TFAP2A-AS1   TFAP2A-AS2   TMEM14B   TMEM14C   TMEM170B   TPMT   TRA-AGC1-1   TRA-AGC10-1   TRA-AGC11-1   TRA-AGC14-1   TRA-AGC2-1   TRA-AGC2-2   TRA-AGC3-1   TRA-AGC4-1   TRA-AGC5-1   TRA-AGC6-1   TRA-AGC7-1   TRA-CGC1-1   TRA-CGC2-1   TRA-CGC4-1   TRA-CGC5-1   TRA-TGC1-1   TRA-TGC2-1   TRA-TGC5-1   TRA-TGC6-1   TRD-GTC2-6   TRD-GTC2-7   TRD-GTC3-1   TRE-CTC1-6   TRF-GAA1-1   TRF-GAA1-2   TRF-GAA3-1   TRF-GAA5-1   TRF-GAA6-1   TRG-GCC2-3   TRH-GTG1-5   TRI-AAT2-1   TRI-AAT3-1   TRI-AAT5-1   TRI-AAT5-2   TRI-AAT5-3   TRI-AAT6-1   TRI-AAT7-2   TRI-AAT8-1   TRI-AAT9-1   TRI-TAT2-2   TRI-TAT2-3   TRI-TAT3-1   TRIM10   TRIM15   TRIM26   TRIM27   TRIM31   TRIM31-AS1   TRIM38   TRIM39   TRIM39-RPP21   TRIM40   TRK-CTT2-4   TRK-TTT3-3   TRK-TTT4-1   TRK-TTT6-1   TRK-TTT7-1   TRK-TTT9-1   TRL-AAG2-2   TRL-AAG3-1   TRL-AAG4-1   TRL-CAA1-2   TRL-CAA2-1   TRL-CAA3-1   TRL-CAG1-7   TRL-TAA2-1   TRL-TAA4-1   TRM-CAT3-1   TRM-CAT3-2   TRM-CAT4-2   TRM-CAT4-3   TRM-CAT5-1   TRP-AGG2-2   TRP-CGG2-1   TRQ-CTG1-1   TRQ-CTG1-2   TRQ-CTG1-3   TRQ-CTG2-1   TRQ-CTG5-1   TRQ-CTG6-1   TRQ-TTG2-1   TRQ-TTG3-1   TRQ-TTG3-2   TRQ-TTG3-3   TRR-ACG1-1   TRR-ACG1-2   TRR-ACG2-2   TRR-ACG2-3   TRR-ACG2-4   TRR-CCG1-1   TRR-CCG1-2   TRR-TCG2-1   TRR-TCG4-1   TRR-TCG5-1   TRR-TCT5-1   TRS-AGA1-1   TRS-AGA2-1   TRS-AGA2-2   TRS-AGA2-3   TRS-AGA2-4   TRS-AGA3-1   TRS-AGA4-1   TRS-CGA2-1   TRS-CGA3-1   TRS-GCT1-1   TRS-GCT2-1   TRS-GCT4-1   TRS-GCT5-1   TRS-GCT6-1   TRS-TGA2-1   TRS-TGA3-1   TRS-TGA4-1   TRT-AGT2-1   TRT-AGT2-2   TRT-AGT3-1   TRT-AGT4-1   TRT-AGT6-1   TRT-CGT1-1   TRT-CGT3-1   TRT-CGT5-1   TRT-TGT1-1   TRV-AAC1-5   TRV-AAC3-1   TRV-AAC4-1   TRV-AAC5-1   TRV-AAC6-1   TRV-CAC1-6   TRV-CAC2-1   TRV-CAC6-1   TRV-CAC7-1   TRV-CAC9-1   TRV-TAC4-1   TRW-CCA3-1   TRW-CCA3-2   TRX-CAT1-2   TRX-CAT1-3   TRX-CAT1-4   TRX-CAT1-5   TRX-CAT1-6   TRX-CAT1-7   TRX-CAT2-1   TRY-GTA1-1   TRY-GTA3-1   TRY-GTA6-1   TRY-GTA8-1   TUBB2B   TXNDC5   UBD   ZBED9   ZFP57   ZKSCAN3   ZKSCAN4   ZKSCAN8   ZNF165   ZNF184   ZNF311   ZNF322   ZNF391   ZNRD1   ZSCAN12   ZSCAN16   ZSCAN16-AS1   ZSCAN23   ZSCAN26   ZSCAN31   ZSCAN9  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000006.12:g.(?_3224310)_(30657190_?)dup
Human AssemblyChrPosition (strand)Source
GRCh3863,224,310 - 30,657,190CLINVAR
GRCh3763,224,544 - 30,624,967CLINVAR
Build 3663,169,543 - 30,732,946CLINVAR
Cytogenetic Map66p25.2-21.33CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 9486488
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2019-10-15
Status: ACTIVE


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