Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV382342 (GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4) Homo sapiens

Symbol: CV382342
Name: GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4
Condition: See cases [RCV000448954]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: AARD   ABRA   ADCK5   ADCY8   ADGRB1   AGO2   ANGPT1   ANKRD46   ANXA13   ARC   ARHGAP39   ASAP1   ASAP1-IT1   ATAD2   ATP6V1C1   AZIN1   BAALC   BOP1   C8orf17   C8orf31   C8orf76   C8orf82   CCDC166   CCN3   CCN4   CHRAC1   COL14A1   COL22A1   COLEC10   COMMD5   COX6C   CPSF1   CSMD3   CTHRC1   CYC1   CYHR1   CYP11B1   CYP11B2   CYRIB   DCAF13   DCSTAMP   DENND3   DEPTOR   DERL1   DGAT1   DPYS   DSCC1   EBAG9   EEF1D   EFR3A   EIF3E   EIF3H   EMC2   ENPP2   ENY2   EPPK1   ERICH5   EXOSC4   EXT1   FAM135B   FAM83A   FAM83H   FAM91A1   FBXL6   FBXO32   FBXO43   FER1L6   FOXH1   FZD6   GLI4   GML   GPAA1   GPIHBP1   GPR20   GPT   GRHL2   GRINA   GSDMC   GSDMD   HAS2   HAS2-AS1   HGH1   HHLA1   HSF1   JRK   KCNK9   KCNQ3   KCNS2   KCNV1   KHDRBS3   KIFC2   KLF10   KLHL38   LAPTM4B   LINC00536   LRATD2   LRP12   LRRC14   LRRC24   LRRC6   LY6D   LY6E   LY6H   LY6K   LYNX1   LYPD2   MAF1   MAFA   MAL2   MAPK15   MATN2   MED30   MFSD3   MIR1234   MIR661   MROH1   MROH5   MROH6   MRPL13   MTBP   MTDH   MTSS1   MYC   NAPRT   NCALD   NDRG1   NDUFB9   NIPAL2   NRBP2   NSMCE2   NUDCD1   OC90   ODF1   OPLAH   OSR2   OXR1   PABPC1   PARP10   PCAT1   PHF20L1   PKHD1L1   PLEC   POLR2K   POP1   POU5F1B   PPP1R16A   PSCA   PTK2   PTP4A3   PUF60   PVT1   PYCR3   RAD21   RECQL4   RGS22   RHPN1   RIDA   RIMS2   RNF139   RNF19A   RPL30   RPL8   RRM2B   RSPO2   SAMD12   SCRIB   SCRT1   SCX   SHARPIN   SLA   SLC25A32   SLC30A8   SLC39A4   SLC45A4   SLC52A2   SLURP1   SNTB1   SNX31   SPAG1   SPATC1   SQLE   ST3GAL1   STK3   SYBU   TAF2   TATDN1   TBC1D31   TG   THEM6   TIGD5   TMEM249   TMEM65   TMEM71   TMEM74   TNFRSF11B   TONSL   TOP1MT   TRAPPC9   TRHR   TRIB1   TRMT12   TRPS1   TSNARE1   TSTA3   UBR5   UBR5-AS1   UTP23   VPS13B   VPS28   WASHC5   WDYHV1   YWHAZ   ZC3H3   ZFAT   ZFP41   ZFPM2   ZHX1   ZHX1-C8orf76   ZHX2   ZNF16   ZNF250   ZNF251   ZNF34   ZNF517   ZNF572   ZNF623   ZNF696   ZNF7   ZNF706   ZNF707  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh37898,432,250 - 146,222,672CLINVAR
Cytogenetic Map88q22.1-24.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 12853654
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2020-03-24
Status: ACTIVE



NHLBI Logo

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