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Variant : CV72078 (GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3) Homo sapiens

Symbol: CV72078
Name: GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051193]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051193]|See cases [RCV000051193]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ABLIM3   ACSL6   ACSL6-AS1   ADRB2   AFAP1L1   AFF4   ANKHD1   ANKHD1-EIF4EBP3   ANXA6   APBB3   ARAP3   ARHGAP26   ARHGAP26-AS1   ARHGAP26-IT1   ARHGEF37   ARSI   ATOX1   BRD8   C5orf15   C5orf24   C5orf46   C5orf66   C5orf66-AS1   C5orf66-AS2   CAMK2A   CAMLG   CARMN   CATSPER3   CCDC69   CCNI2   CD14   CD74   CDC23   CDC25C   CDC42SE2   CDKL3   CDKN2AIPNL   CDX1   CLMAT3   CNOT8   CSF1R   CSF2   CSNK1A1   CTNNA1   CXCL14   CXXC5   CXXC5-AS1   CYSTM1   DCANP1   DCTN4   DDX46   DELE1   DIAPH1   DIAPH1-AS1   DNAJC18   DND1   DPYSL3   ECSCR   EGR1   EIF4EBP3   ETF1   FAM114A2   FAM13B   FAM53C   FAT2   FAXDC2   FBXO38   FCHSD1   FGF1   FNIP1   FSTL4   G3BP1   GALNT10   GDF9   GEMIN5   GFRA3   GLRA1   GM2A   GNPDA1   GPR151   GPX3   GRIA1   GRPEL2   GRPEL2-AS1   GRXCR2   HAND1   HARS1   HARS2   HBEGF   HDAC3   HINT1   HMGXB3   HMHB1   HNRNPA0   HSPA4   HSPA9   HTR4   IGIP   IK   IL13   IL17B   IL3   IL4   IL5   IL9   IRF1   IRF1-AS1   IRGM   JADE2   JAKMIP2   JAKMIP2-AS1   KCTD16   KDM3B   KIF20A   KIF3A   KIF4B   KLHL3   LARP1   LARS1   LEAP2   LECT2   LINC01470   LINC01843   LINC01844   LINC01861   LINC01933   LINC02863   LRRTM2   LYRM7   MACROH2A1   MALINC1   MARCOL   MATR3   MEIKIN   MFAP3   MIR1289-2   MIR1294   MIR1303   MIR143   MIR145   MIR3141   MIR3655   MIR3661   MIR378A   MIR378H   MIR3936   MIR3936HG   MIR5197   MIR5692C1   MIR584   MIR6499   MIR6830   MIR6831   MIR874   MRPL22   MYOT   MYOZ3   MZB1   NDFIP1   NDST1   NDST1-AS1   NDUFA2   NEUROG1   NME5   NMUR2   NR3C1   NRG2   P4HA2   P4HA2-AS1   PAIP2   PCBD2   PCDH1   PCDH12   PCDHA1   PCDHA10   PCDHA11   PCDHA12   PCDHA13   PCDHA2   PCDHA3   PCDHA4   PCDHA5   PCDHA6   PCDHA7   PCDHA8   PCDHA9   PCDHA@   PCDHAC1   PCDHAC2   PCDHACT   PCDHB1   PCDHB10   PCDHB11   PCDHB12   PCDHB13   PCDHB14   PCDHB15   PCDHB16   PCDHB2   PCDHB3   PCDHB4   PCDHB5   PCDHB6   PCDHB7   PCDHB8   PCDHB9   PCDHB@   PCDHG@   PCDHGA1   PCDHGA10   PCDHGA11   PCDHGA12   PCDHGA2   PCDHGA3   PCDHGA4   PCDHGA5   PCDHGA6   PCDHGA7   PCDHGA8   PCDHGA9   PCDHGB1   PCDHGB2   PCDHGB3   PCDHGB4   PCDHGB5   PCDHGB6   PCDHGB7   PCDHGC3   PCDHGC4   PCDHGC5   PCYOX1L   PDE6A   PDGFRB   PDLIM4   PFDN1   PITX1   PKD2L2   PLAC8L1   POU4F3   PPARGC1B   PPP2CA   PPP2R2B   PPP2R2B-IT1   PRELID2   PROB1   PSD2   PSD2-AS1   PURA   RAD50   RAPGEF6   RBM22   RBM27   REEP2   RELL2   RNF14   RPS14   SAP30L   SAP30L-AS1   SAR1B   SCGB3A2   SEC24A   SEPTIN8   SH3RF2   SH3TC2   SH3TC2-DT   SHROOM1   SIL1   SKP1   SLC22A4   SLC22A5   SLC23A1   SLC25A2   SLC25A48   SLC25A48-AS1   SLC26A2   SLC35A4   SLC36A1   SLC36A2   SLC36A3   SLC4A9   SLC6A7   SMAD5   SMAD5-AS1   SMIM3   SMIM32   SMIM33   SNHG4   SNORA74A   SNORA74D   SNORD63   SNORD63B   SOWAHA   SPARC   SPATA24   SPINK1   SPINK13   SPINK14   SPINK5   SPINK6   SPINK7   SPINK9   SPOCK1   SPRY4   SPRY4-AS1   SPRY4-IT1   SRA1   STING1   STK32A   STK32A-AS1   SYNPO   TAF7   TCERG1   TCF7   TCOF1   TGFBI   TH2LCRR   TIFAB   TIGD6   TMCO6   TNIP1   TRPC7   TRPC7-AS2   TXNDC15   UBE2B   UBE2D2   UQCRQ   VDAC1   VTRNA1-1   VTRNA1-2   VTRNA1-3   VTRNA2-1   WDR55   WNT8A   WSPAR   YIPF5   ZCCHC10   ZMAT2   ZNF300  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000005.10:g.(?_130860928)_(155321811_?)dup
NC_000005.9:g.(?_130196621)_(154701371_?)dup
NC_000005.8:g.(?_130224520)_(154681564_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh385130,860,928 - 155,321,811CLINVAR
GRCh375130,196,621 - 154,701,371CLINVAR
Build 365130,224,520 - 154,681,564CLINVAR
Cytogenetic Map55q23.3-33.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8618233
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-12-03
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.