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Variant : CV73513 (GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1) Homo sapiens

Symbol: CV73513
Name: GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052710]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052710]|See cases [RCV000052710]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AASDHPPT   AMOTL1   ANGPTL5   ANKRD42   ANKRD49   ARHGAP42   BIRC2   BIRC3   C11orf54   C11orf97   CARD16   CARD17   CARD18   CASP1   CASP12   CASP4   CASP5   CCDC81   CCDC82   CCDC83   CCDC89   CCDC90B   CEP126   CEP295   CEP57   CFAP300   CHORDC1   CNTN5   CREBZF   CTSC   CWC15   DCUN1D5   DDI1   DDIAS   DEUP1   DISC1FP1   DLG2   DLG2-AS2   DYNC2H1   EED   ENDOD1   FAM181B   FAM76B   FAT3   FOLH1B   FUT4   FZD4   FZD4-DT   GAB2   GPR83   GRIA4   GRM5   GRM5-AS1   GUCY1A2   HEPHL1   HIKESHI   IZUMO1R   JRKL   JRKL-AS1   KBTBD3   KDM4D   KDM4E   LINC02552   LINC02553   LINC02700   LINC02711   LINC02713   LINC02719   LINC02720   LINC02728   LINC02734   LINC02737   LINC02746   LINC02748   LINC02756   MAML2   ME3   ME3-DT   MED17   MIR1260B   MIR1261   MIR1304   MIR3166   MIR3920   MIR4300   MIR4300HG   MIR4490   MIR4693   MIR548L   MIR5579   MIR6755   MIR708   MMP1   MMP10   MMP12   MMP13   MMP20   MMP27   MMP3   MMP7   MMP8   MRE11   MSANTD4   MTMR2   MTNR1B   NAALAD2   NARS2   NOX4   PANX1   PCF11   PCF11-AS1   PDGFD   PGR   PGR-AS1   PICALM   PIWIL4   PRCP   PRSS23   RAB30   RAB30-DT   RAB38   SCARNA9   SESN3   SLC36A4   SMCO4   SNORA1   SNORA18   SNORA25   SNORA32   SNORA40   SNORA70E   SNORA8   SNORD13I   SNORD5   SNORD6   SRSF8   SYTL2   TAF1D   TENM4   TMEM123   TMEM126A   TMEM126B   TMEM135   TRIM49   TRIM49C   TRIM49D1   TRIM49D2   TRIM64   TRIM64B   TRIM77   TRPC6   TYR   UBTFL1   VSTM5   YAP1  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000011.10:g.(?_78232836)_(106779420_?)del
NC_000011.9:g.(?_77943882)_(106650146_?)del
NC_000011.8:g.(?_77621530)_(106155356_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381178,232,836 - 106,779,420CLINVAR
GRCh371177,943,882 - 106,650,146CLINVAR
Build 361177,621,530 - 106,155,356CLINVAR
Cytogenetic Map1111q14.1-22.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8619685
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-10-08
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.