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Variant : CV72707 (GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3) Homo sapiens

Symbol: CV72707
Name: GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051857]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051857]|See cases [RCV000051857]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ADIPOR1   ADORA1   AIDA   ANGEL2   ARL8A   ASCL5   ASPM   ATF3   ATP2B4   ATP6V1G3   AVPR1B   B3GALT2   BATF3   BLACAT1   BPNT1   BRINP3   BROX   BTG2   C1orf115   C1orf116   C1orf147   C1orf53   C1orf74   C4BPA   C4BPB   CACNA1S   CAMK1G   CAMSAP2   CAPN2   CAPN8   CCDC185   CD34   CD46   CD55   CDC73   CDK18   CENPF   CFH   CFHR1   CFHR2   CFHR3   CFHR4   CFHR5   CHI3L1   CHIT1   CNTN2   CR1   CR1L   CR2   CRB1   CSRP1   CTSE   CYB5R1   DDX59   DDX59-AS1   DEGS1   DENND1B   DISP1   DSTYK   DTL   DUSP10   DYRK3   DYRK3-AS1   EIF2D   ELF3   ELF3-AS1   ELK4   EPRS1   ERLNC1   ESRRG   ETNK2   F13B   FAM177B   FAM71A   FAM72A   FBXO28   FCAMR   FCMR   FLVCR1   FLVCR1-DT   FMOD   G0S2   GLRX2   GOLT1A   GPATCH2   GPR25   GPR37L1   HHAT   HHIPL2   HLX   HLX-AS1   HSD11B1   HSD11B1-AS1   IARS2   IGFN1   IKBKE   IL10   IL19   IL20   IL24   INAVA   INTS7   IPO9   IPO9-AS1   IRF6   KCNH1   KCNH1-IT1   KCNK2   KCNT2   KCTD3   KDM5B   KIF14   KIF21B   KISS1   KLHDC8A   KLHL12   LAD1   LAMB3   LAX1   LEMD1   LEMD1-AS1   LEMD1-DT   LGR6   LHX9   LINC00210   LINC00260   LINC00303   LINC00467   LINC00538   LINC00628   LINC00862   LINC01031   LINC01032   LINC01036   LINC01037   LINC01136   LINC01221   LINC01222   LINC01351   LINC01352   LINC01353   LINC01653   LINC01655   LINC01680   LINC01693   LINC01696   LINC01698   LINC01710   LINC01717   LINC01720   LINC01724   LINC01740   LINC01774   LINC02257   LINC02474   LINC02608   LINC02769   LINC02771   LINC02773   LINC02779   LINC02789   LINC02817   LINC02869   LMOD1   LOC284581   LPGAT1   LPGAT1-AS1   LRRN2   LYPLAL1   LYPLAL1-AS1   LYPLAL1-DT   MAPKAPK2   MARK1   MDM4   MFSD4A   MFSD4A-AS1   MIA3   MIR1231   MIR1278   MIR135B   MIR181A1   MIR181A1HG   MIR181B1   MIR194-1   MIR205   MIR205HG   MIR215   MIR29B2   MIR29B2CHG   MIR29C   MIR3122   MIR320B2   MIR4260   MIR4426   MIR4735   MIR5191   MIR664A   MIR6739   MIR6740   MIR6769B   MTARC1   MTARC2   MYBPH   MYOG   MYOPARR   NAV1   NEK2   NEK7   NENF   NFASC   NR5A2   NSL1   NUAK2   NUCKS1   NVL   OPTC   PACC1   PCAT6   PFKFB2   PHLDA3   PIGR   PIK3C2B   PKP1   PLEKHA6   PLXNA2   PM20D1   PPFIA4   PPP1R12B   PPP1R15B   PPP2R5A   PRELP   PROX1   PROX1-AS1   PTPN14   PTPN7   PTPRC   RAB29   RAB3GAP2   RAB7B   RABIF   RASSF5   RBBP5   RCOR3   RD3   REN   RGS1   RGS13   RGS18   RGS2   RGS21   RHEX   RNPEP   RO60   RPS6KC1   RRP15   SCARNA18B   SERTAD4   SERTAD4-AS1   SHISA4   SLC26A9   SLC26A9-AS1   SLC30A1   SLC30A10   SLC41A1   SLC45A3   SMYD2   SNORA16B   SNORA36B   SNORA70H   SNORA77   SNRPE   SOX13   SPATA17   SPATA17-AS1   SPATA45   SRGAP2   SUSD4   SYT14   SYT2   TAF1A   TAF1A-AS1   TATDN3   TGFB2   TGFB2-AS1   TGFB2-OT1   TIMM17A   TLR5   TMCC2   TMEM183A   TMEM81   TMEM9   TNNI1   TNNT2   TP53BP2   TRAF3IP3   TRAF5   TRK-TTT3-1   TRK-TTT3-2   TRK-TTT8-1   TRT-TGT2-1   UBE2T   UCHL5   USH2A   UTP25   VASH2   YOD1   ZBED6   ZBTB41   ZC3H11A   ZC3H11B   ZNF281  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000001.11:g.(?_187143981)_(224299417_?)dup
NC_000001.10:g.(?_187113113)_(224487119_?)dup
NC_000001.9:g.(?_185379736)_(222553742_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381187,143,981 - 224,299,417CLINVAR
GRCh371187,113,113 - 224,487,119CLINVAR
Build 361185,379,736 - 222,553,742CLINVAR
Cytogenetic Map11q31.1-42.11CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8618868
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-10-15
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.