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Variant : CV435466 (GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3) Homo sapiens

Symbol: CV435466
Name: GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3
Condition: See cases [RCV000511761]
Clinical Significance: pathogenic
Last Evaluated: 08/01/2014
Review Status: no assertion criteria provided
Related Genes: AARD   ABRA   ADCY8   ANGPT1   ANKRD46   ANXA13   ASAP1   ASAP1-IT1   ATAD2   ATP6V1C1   AZIN1   BAALC   C8orf17   C8orf37   C8orf76   C8orf87   CCN3   CCN4   CCNE2   CDH17   CIBAR1   COL14A1   COL22A1   COLEC10   COX6C   CPQ   CSMD3   CTHRC1   CYRIB   DCAF13   DCSTAMP   DEPTOR   DERL1   DPY19L4   DPYS   DSCC1   EBAG9   EFR3A   EIF3E   EIF3H   EMC2   ENPP2   ENY2   ERICH5   ESRP1   EXT1   FAM135B   FAM83A   FAM91A1   FBXO32   FBXO43   FER1L6   FSBP   FZD6   GDF6   GEM   GRHL2   GSDMC   HAS2   HAS2-AS1   HHLA1   INTS8   KCNK9   KCNQ3   KCNS2   KCNV1   KHDRBS3   KLF10   KLHL38   LAPTM4B   LINC00536   LRATD2   LRP12   LRRC6   MAL2   MATN2   MED30   MRPL13   MTBP   MTDH   MTERF3   MTSS1   MYC   NCALD   NDRG1   NDUFAF6   NDUFB9   NIPAL2   NSMCE2   NUDCD1   OC90   ODF1   OSR2   OXR1   PABPC1   PCAT1   PDP1   PHF20L1   PKHD1L1   PLEKHF2   POLR2K   POP1   POU5F1B   PTDSS1   PVT1   RAD21   RAD54B   RBM12B   RGS22   RIDA   RIMS2   RNF139   RNF19A   RPL30   RRM2B   RSPO2   RUNX1T1   SAMD12   SDC2   SLA   SLC25A32   SLC30A8   SNTB1   SNX31   SPAG1   SQLE   ST3GAL1   STK3   SYBU   TAF2   TATDN1   TBC1D31   TG   TMEM65   TMEM67   TMEM71   TMEM74   TNFRSF11B   TP53INP1   TRAPPC9   TRHR   TRIB1   TRIQK   TRMT12   TRPS1   TSPYL5   UBR5   UBR5-AS1   UQCRB   UTP23   VIRMA   VPS13B   WASHC5   WDYHV1   YWHAZ   ZFAT   ZFPM2   ZHX1   ZHX1-C8orf76   ZHX2   ZNF572   ZNF706  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh37893,047,482 - 141,355,635CLINVAR
Cytogenetic Map88q21.3-24.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13444730
Created: 2017-11-07
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.