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Variant : CV160474 (GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3) Homo sapiens

Symbol: CV160474
Name: GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3
Condition: See cases [RCV000139539]
Clinical Significance: pathogenic
Last Evaluated: 09/21/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AARD   ABRA   ADCY8   ADHFE1   ALKAL1   ANGPT1   ANKRD46   ANXA13   ARFGEF1   ARMC1   ASAP1   ASAP1-IT1   ASAP1-IT2   ASPH   ATAD2   ATP6V0D2   ATP6V1C1   ATP6V1H   AZIN1   AZIN1-AS1   BAALC   BAALC-AS1   BAALC-AS2   BHLHE22   C8orf34   C8orf34-AS1   C8orf37   C8orf37-AS1   C8orf44   C8orf44-SGK3   C8orf76   C8orf87   C8orf88   C8orf89   CA1   CA13   CA2   CA3   CA3-AS1   CA8   CALB1   CASC11   CASC19   CASC21   CASC8   CASC9   CCAT1   CCAT2   CCDC26   CCN3   CCN4   CCNE2   CDH17   CEBPD   CERNA3   CHCHD7   CHD7   CHMP4C   CIBAR1   CLVS1   CNBD1   CNGB3   COL14A1   COL22A1   COLEC10   COPS5   COX6C   CPA6   CPNE3   CPQ   CRH   CRISPLD1   CSMD3   CSPP1   CTHRC1   CYP7A1   CYP7B1   CYRIB   DCAF13   DCAF4L2   DCSTAMP   DECR1   DEPTOR   DERL1   DNAJC5B   DPY19L4   DPYS   DSCC1   E2F5   EBAG9   EFCAB1   EFR3A   EIF3E   EIF3H   ELOC   EMC2   ENPP2   ENY2   ERICH5   ESRP1   EXT1   EYA1   FABP12   FABP4   FABP5   FABP9   FAM110B   FAM135B   FAM83A   FAM83A-AS1   FAM91A1   FBXO32   FBXO43   FER1L6   FER1L6-AS1   FER1L6-AS2   FSBP   FZD6   GASAL1   GDAP1   GDF6   GEM   GGH   GRHL2   GSDMC   HAS2   HAS2-AS1   HEY1   HHLA1   HNF4G   HPYR1   IGLV8OR8-1   IL7   IMPA1   IMPAD1   INTS8   JPH1   KCNB2   KCNQ3   KCNS2   KCNV1   KHDRBS3   KLF10   KLHL38   LACTB2   LACTB2-AS1   LAPTM4B   LINC00251   LINC00293   LINC00534   LINC00535   LINC00536   LINC00588   LINC00824   LINC00861   LINC00964   LINC00967   LINC00968   LINC00976   LINC00977   LINC01030   LINC01111   LINC01151   LINC01181   LINC01289   LINC01298   LINC01299   LINC01301   LINC01414   LINC01419   LINC01591   LINC01592   LINC01602   LINC01603   LINC01606   LINC01607   LINC01608   LINC01609   LINC01617   LINC02055   LINC02155   LINC02237   LINC02605   LINC02839   LINC02842   LINC02844   LINC02847   LINC02855   LRATD2   LRP12   LRRC6   LRRC69   LRRCC1   LY96   LYN   LYPLA1   MAL2   MAL2-AS1   MATN2   MCM4   MCMDC2   MED30   MIR1204   MIR1205   MIR1206   MIR1207   MIR1208   MIR12123   MIR124-2   MIR124-2HG   MIR2052   MIR2052HG   MIR2053   MIR30B   MIR30D   MIR3149   MIR3150A   MIR3150B   MIR3150BHG   MIR3151   MIR3610   MIR3686   MIR378D2   MIR4470   MIR4471   MIR4661   MIR4662A   MIR4662B   MIR4663   MIR5194   MIR548A3   MIR548AA1   MIR548AZ   MIR548D1   MIR5680   MIR5681A   MIR5681B   MIR5708   MIR599   MIR6844   MIR7705   MIR7848   MIR8084   MIR875   MIR9903   MMP16   MOS   MRPL13   MRPL15   MRPS28   MSC   MSC-AS1   MTBP   MTDH   MTERF3   MTFR1   MTSS1   MYBL1   MYC   NBN   NCALD   NCOA2   NCRNA00250   NDRG1   NDUFAF6   NDUFB9   NECAB1   NIPAL2   NKAIN3   NKAIN3-IT1   NPBWR1   NSMAF   NSMCE2   NUDCD1   OC90   ODF1   OPRK1   OSGIN2   OSR2   OTUD6B   OTUD6B-AS1   OXR1   PABPC1   PAG1   PCAT1   PCAT2   PCMTD1   PDE7A   PDP1   PENK   PEX2   PHF20L1   PI15   PIP4P2   PKHD1L1   PKIA   PKIA-AS1   PLAG1   PLEKHF2   PMP2   POLR2K   POP1   POU5F1B   PPDPFL   PPP1R42   PRDM14   PREX2   PRKDC   PRNCR1   PSKH2   PTCSC1   PTDSS1   PVT1   PXDNL   RAB2A   RAD21   RAD21-AS1   RAD54B   RALYL   RB1CC1   RBIS   RBM12B   RBM12B-AS1   RDH10   RDH10-AS1   RGS20   RGS22   RIDA   RIMS2   RIPK2   RMDN1   RNF139   RNF139-AS1   RNF19A   RNU105C   RP1   RPL30   RPL7   RPS20   RRM2B   RRS1   RRS1-AS1   RSPO2   RUNX1T1   SAMD12   SAMD12-AS1   SBSPON   SDC2   SDCBP   SDR16C5   SGK3   SLA   SLC10A5   SLC25A32   SLC26A7   SLC30A8   SLC7A13   SLCO5A1   SMILR   SNAI2   SNHG6   SNORA1B   SNORA72   SNORD168   SNORD173   SNORD3H   SNORD54   SNORD77B   SNORD87   SNTB1   SNTG1   SNX16   SNX31   SOX17   SPAG1   SPIDR   SQLE   ST18   ST3GAL1   STAU2   STAU2-AS1   STK3   STMN2   SULF1   SYBU   TAF2   TATDN1   TBC1D31   TCEA1   TCF24   TERF1   TG   TGS1   TMEM64   TMEM65   TMEM67   TMEM68   TMEM70   TMEM71   TMEM74   TMEM75   TNFRSF11B   TOX   TP53INP1   TPD52   TRA-AGC8-2   TRAM1   TRHR   TRIB1   TRIM55   TRIQK   TRM-CAT1-1   TRMT12   TRPA1   TRPS1   TRS-AGA2-5   TRY-GTA5-1   TRY-GTA5-2   TSPYL5   TTPA   UBE2V2   UBE2W   UBR5   UBR5-AS1   UBXN2B   UQCRB   UTP23   VCPIP1   VIRMA   VPS13B   VPS13B-DT   VXN   WASHC5   WDYHV1   WWP1   XKR4   XKR9   YTHDF3   YTHDF3-AS1   YWHAZ   ZBTB10   ZC2HC1A   ZFAND1   ZFAT   ZFAT-AS1   ZFHX4   ZFHX4-AS1   ZFPM2   ZFPM2-AS1   ZHX1   ZHX1-C8orf76   ZHX2   ZNF572   ZNF704   ZNF706   ZNNT1  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000008.11:g.(?_46031340)_(139285494_?)dup
NC_000008.10:g.(?_46942962)_(140297737_?)dup
NC_000008.9:g.(?_47062127)_(140366919_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38846,031,340 - 139,285,494CLINVAR
GRCh37846,942,962 - 140,297,737CLINVAR
Build 36847,062,127 - 140,366,919CLINVAR
Cytogenetic Map88q11.1-24.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9487070
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-07
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.