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Variant : CV156067 (GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3) Homo sapiens

Symbol: CV156067
Name: GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3
Condition: See cases [RCV000135621]
Clinical Significance: pathogenic|likely pathogenic
Last Evaluated: 01/27/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AARD   ABRA   ADCY8   ANGPT1   ANKRD46   ANXA13   ASAP1   ASAP1-IT1   ASAP1-IT2   ATAD2   ATP6V1C1   AZIN1   AZIN1-AS1   BAALC   BAALC-AS1   BAALC-AS2   C8orf37   C8orf37-AS1   C8orf76   C8orf87   C8orf88   CALB1   CASC11   CASC19   CASC21   CASC8   CCAT1   CCAT2   CCDC26   CCN3   CCN4   CCNE2   CDH17   CIBAR1   CNBD1   CNGB3   COL14A1   COLEC10   COX6C   CPNE3   CPQ   CSMD3   CTHRC1   CYRIB   DCAF13   DCAF4L2   DCSTAMP   DECR1   DEPTOR   DERL1   DPY19L4   DPYS   DSCC1   EBAG9   EFR3A   EIF3E   EIF3H   EMC2   ENPP2   ENY2   ERICH5   ESRP1   EXT1   FAM83A   FAM83A-AS1   FAM91A1   FBXO32   FBXO43   FER1L6   FER1L6-AS1   FER1L6-AS2   FSBP   FZD6   GASAL1   GDF6   GEM   GRHL2   GSDMC   HAS2   HAS2-AS1   HHLA1   HPYR1   INTS8   KCNQ3   KCNS2   KCNV1   KHDRBS3   KLF10   KLHL38   LAPTM4B   LINC00534   LINC00535   LINC00536   LINC00824   LINC00861   LINC00964   LINC00976   LINC00977   LINC01030   LINC01151   LINC01181   LINC01298   LINC01591   LINC01608   LINC01609   LINC02055   LINC02237   LINC02844   LINC02855   LRATD2   LRP12   LRRC6   LRRC69   MAL2   MAL2-AS1   MATN2   MED30   MIR1204   MIR1205   MIR1206   MIR1207   MIR1208   MIR2053   MIR30B   MIR30D   MIR3150A   MIR3150B   MIR3150BHG   MIR3151   MIR3610   MIR3686   MIR378D2   MIR4471   MIR4661   MIR4662A   MIR4662B   MIR4663   MIR5194   MIR548A3   MIR548AA1   MIR548AZ   MIR548D1   MIR5680   MIR599   MIR6844   MIR7705   MIR7848   MIR8084   MIR875   MIR9903   MMP16   MRPL13   MTBP   MTDH   MTERF3   MTSS1   MYC   NBN   NCALD   NCRNA00250   NDRG1   NDUFAF6   NDUFB9   NECAB1   NIPAL2   NSMCE2   NUDCD1   OC90   ODF1   OSGIN2   OSR2   OTUD6B   OTUD6B-AS1   OXR1   PABPC1   PCAT1   PCAT2   PDP1   PHF20L1   PIP4P2   PKHD1L1   PLEKHF2   POLR2K   POP1   POU5F1B   PRNCR1   PTCSC1   PTDSS1   PVT1   RAD21   RAD21-AS1   RAD54B   RBM12B   RBM12B-AS1   RGS22   RIDA   RIMS2   RIPK2   RMDN1   RNF139   RNF139-AS1   RNF19A   RPL30   RRM2B   RSPO2   RUNX1T1   SAMD12   SAMD12-AS1   SDC2   SLA   SLC25A32   SLC26A7   SLC30A8   SMILR   SNORA72   SNORD168   SNORD173   SNORD3H   SNORD77B   SNTB1   SNX31   SPAG1   SQLE   ST3GAL1   STK3   SYBU   TAF2   TATDN1   TBC1D31   TG   TMEM64   TMEM65   TMEM67   TMEM71   TMEM74   TMEM75   TNFRSF11B   TP53INP1   TRHR   TRIB1   TRIQK   TRM-CAT1-1   TRMT12   TRPS1   TRS-AGA2-5   TSPYL5   UBR5   UBR5-AS1   UQCRB   UTP23   VIRMA   VPS13B   VPS13B-DT   WASHC5   WDYHV1   WWP1   YWHAZ   ZFAT   ZFAT-AS1   ZFPM2   ZFPM2-AS1   ZHX1   ZHX1-C8orf76   ZHX2   ZNF572   ZNF706   ZNNT1  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000008.11:g.(?_86300584)_(137022587_?)dup
NC_000008.10:g.(?_87312813)_(138034830_?)dup
NC_000008.9:g.(?_87381929)_(138104012_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38886,300,584 - 137,022,587CLINVAR
GRCh37887,312,813 - 138,034,830CLINVAR
Build 36887,381,929 - 138,104,012CLINVAR
Cytogenetic Map88q21.3-24.23CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9483193
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-03-24
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.