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Variant : CV72715 (GRCh38/hg38 5q33.3-35.3(chr5:160029980-181269805)x3) Homo sapiens

Symbol: CV72715
Name: GRCh38/hg38 5q33.3-35.3(chr5:160029980-181269805)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051865]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051865]|See cases [RCV000051865]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ADAMTS2   ARL10   ATP10B   ATP6V0E1   B4GALT7   BNIP1   BOD1   BTNL3   BTNL8   BTNL9   C1QTNF2   C5orf47   C5orf58   C5orf60   CANX   CBY3   CCNG1   CCNJL   CDHR2   CLK4   CLTB   CNOT6   COL23A1   CPEB4   CPLX2   CREBRF   DBN1   DDX41   DOCK2   DOK3   DRD1   DUSP1   EFCAB9   EIF4E1B   ERGIC1   F12   FABP6   FAF2   FAM153A   FAM153B   FAM153CP   FAM193B   FBLL1   FBXW11   FGF18   FGFR4   FLT4   FOXI1   GABRA1   GABRA6   GABRB2   GABRG2   GABRP   GFPT2   GPRIN1   GRK6   GRM6   HEIH   HIGD2A   HK3   HMMR   HMMR-AS1   HNRNPAB   HNRNPH1   HRH2   INSYN2B   KCNIP1   KCNMB1   KIAA1191   LCP2   LINC00847   LINC01187   LINC01202   LINC01366   LINC01411   LINC01484   LINC01485   LINC01574   LINC01938   LINC01942   LINC01944   LINC01947   LINC01951   LINC01962   LINC02143   LINC02159   LINC02222   LMAN2   LOC100288254   LTC4S   MAML1   MAPK9   MAT2B   MGAT1   MGAT4B   MIR103A1   MIR103B1   MIR1229   MIR1271   MIR146A   MIR218-2   MIR3142   MIR3142HG   MIR340   MIR378E   MIR3912   MIR4281   MIR4634   MIR4638   MIR5003   MIR585   MIR8056   MIR8089   MRNIP   MSX2   MXD3   N4BP3   NEURL1B   NHP2   NKX2-5   NOP16   NPM1   NSD1   NSG2   NUDCD2   OR2V1   OR2V2   OR2Y1   PANK3   PDLIM7   PFN3   PHYKPL   PRELID1   PROP1   PRR7   PRR7-AS1   PTTG1   PWWP2A   RAB24   RACK1   RANBP17   RARS1   RASGEF1C   RGS14   RMND5B   RNF130   RNF44   RPL26L1   RUFY1   SCGB3A1   SFXN1   SH3PXD2B   SIMC1   SLC34A1   SLIT3   SLU7   SMIM23   SNCB   SNORA74B   SNORD95   SNORD96A   SPDL1   SQSTM1   STC2   STK10   TBC1D9B   TENM2   THOC3   TLX3   TMED9   TRA-TGC3-1   TRIM41   TRIM52   TRIM52-AS1   TRIM7   TRK-CTT2-2   TRK-CTT2-3   TRL-AAG1-1   TRL-AAG1-2   TRL-AAG1-3   TRL-AAG2-1   TRP-TGG3-1   TRT-TGT6-1   TRV-AAC1-2   TRV-AAC1-3   TRV-AAC1-4   TRV-AAC2-1   TRV-CAC1-2   TRV-CAC1-3   TRV-CAC1-4   TRV-CAC1-5   TSPAN17   TTC1   UBTD2   UIMC1   UNC5A   USP12P1   WWC1   ZBED8   ZFP2   ZFP62   ZNF346   ZNF354A   ZNF354B   ZNF354C   ZNF454   ZNF879  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000005.10:g.(?_160029980)_(181269805_?)dup
NC_000005.9:g.(?_159456987)_(180696806_?)dup
NC_000005.8:g.(?_159389565)_(180629412_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh385160,029,980 - 181,269,805CLINVAR
GRCh375159,456,987 - 180,696,806CLINVAR
Build 365159,389,565 - 180,629,412CLINVAR
Cytogenetic Map55q33.3-35.3CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
RGD Object Information
RGD ID: 8618876
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2017-10-31
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.