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Variant : CV71640 (GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3) Homo sapiens

Symbol: CV71640
Name: GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050638]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050638]|See cases [RCV000050638]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AARD   ADCK5   ADCY8   ADGRB1   AGO2   ANXA13   ARC   ARHGAP39   ASAP1   ASAP1-IT1   ASAP1-IT2   ATAD2   BOP1   C8orf17   C8orf31   C8orf33   C8orf76   C8orf82   CASC11   CASC19   CASC21   CASC8   CCAT1   CCAT2   CCDC166   CCDC26   CCN3   CCN4   CHRAC1   COL14A1   COL22A1   COLEC10   COMMD5   CPSF1   CYC1   CYHR1   CYP11B1   CYP11B2   CYRIB   DENND3   DEPTOR   DERL1   DGAT1   DSCC1   EEF1D   EFR3A   EIF3H   ENPP2   EPPK1   EXOSC4   EXT1   FAM135B   FAM83A   FAM83A-AS1   FAM83H   FAM83H-AS1   FAM91A1   FBXL6   FBXO32   FER1L6   FER1L6-AS1   FER1L6-AS2   FOXH1   GLI4   GML   GPAA1   GPIHBP1   GPR20   GPT   GRINA   GSDMC   GSDMD   HAS2   HAS2-AS1   HGH1   HHLA1   HPYR1   HSF1   IQANK1   JRK   KCNK9   KCNQ3   KHDRBS3   KIFC2   KLHL38   LINC00051   LINC00536   LINC00824   LINC00861   LINC00964   LINC00976   LINC00977   LINC01151   LINC01300   LINC01591   LINC02055   LINC02855   LINC02878   LNCOC1   LRATD2   LRRC14   LRRC24   LRRC6   LY6D   LY6E   LY6E-DT   LY6H   LY6K   LY6L   LYNX1   LYNX1-SLURP2   LYPD2   MAF1   MAFA   MAFA-AS1   MAL2   MAL2-AS1   MAPK15   MED30   MFSD3   MINCR   MIR10400   MIR1204   MIR1205   MIR1206   MIR1207   MIR1208   MIR1234   MIR1302-7   MIR151A   MIR30B   MIR30D   MIR3610   MIR3686   MIR4472-1   MIR4662A   MIR4662B   MIR4663   MIR4664   MIR5194   MIR548AA1   MIR548AZ   MIR548D1   MIR661   MIR6844   MIR6845   MIR6846   MIR6847   MIR6848   MIR6849   MIR6850   MIR6893   MIR7112   MIR7848   MIR937   MIR939   MROH1   MROH5   MROH6   MRPL13   MTBP   MTSS1   MYC   NAPRT   NCRNA00250   NDRG1   NDUFB9   NRBP2   NSMCE2   OC90   OPLAH   PARP10   PCAT1   PCAT2   PEG13   PHF20L1   PLEC   POU5F1B   PPP1R16A   PRNCR1   PSCA   PTCSC1   PTK2   PTP4A3   PUF60   PVT1   PYCR3   RAD21   RAD21-AS1   RECQL4   RHPN1   RHPN1-AS1   RNF139   RNF139-AS1   RPL8   SAMD12   SAMD12-AS1   SCRIB   SCRT1   SCX   SHARPIN   SLA   SLC30A8   SLC39A4   SLC45A4   SLC52A2   SLURP1   SLURP2   SMILR   SNORD149   SNORD168   SNTB1   SPATC1   SQLE   ST3GAL1   TAF2   TATDN1   TBC1D31   TG   THEM6   TIGD5   TMEM249   TMEM65   TMEM71   TMEM75   TNFRSF11B   TONSL   TONSL-AS1   TOP1MT   TRAPPC9   TRIB1   TRM-CAT1-1   TRMT12   TRPS1   TSNARE1   TSTA3   UTP23   VPS28   WASHC5   WDR97   WDYHV1   ZC3H3   ZFAT   ZFAT-AS1   ZFP41   ZHX1   ZHX1-C8orf76   ZHX2   ZNF16   ZNF250   ZNF251   ZNF252P-AS1   ZNF34   ZNF517   ZNF572   ZNF623   ZNF696   ZNF7   ZNF707  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000008.11:g.(?_113580402)_(145054634_?)dup
NC_000008.10:g.(?_114592631)_(146280020_?)dup
NC_000008.9:g.(?_114661807)_(146250824_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh388113,580,402 - 145,054,634CLINVAR
GRCh378114,592,631 - 146,280,020CLINVAR
Build 368114,661,807 - 146,250,824CLINVAR
Cytogenetic Map88q23.3-24.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8617741
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-01-14
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.