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Variant : CV158727 (GRCh38/hg38 11q14.3-22.3(chr11:91086659-109595582)x1) Homo sapiens

Symbol: CV158727
Name: GRCh38/hg38 11q14.3-22.3(chr11:91086659-109595582)x1
Condition: See cases [RCV000138038]
Clinical Significance: pathogenic
Last Evaluated: 01/03/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AASDHPPT   ACAT1   ALKBH8   AMOTL1   ANGPTL5   ANKRD49   ARHGAP42   ATM   BIRC2   BIRC3   C11orf54   C11orf65   C11orf87   C11orf97   CARD16   CARD17   CARD18   CASP1   CASP12   CASP4   CASP5   CCDC82   CEP126   CEP295   CEP57   CFAP300   CNTN5   CUL5   CWC15   CWF19L2   DCUN1D5   DDI1   DDX10   DEUP1   DYNC2H1   ELMOD1   ENDOD1   EXPH5   FAM76B   FAT3   FUT4   GPR83   GRIA4   GUCY1A2   HEPHL1   IZUMO1R   JRKL   JRKL-AS1   KBTBD3   KDM4D   KDM4E   LINC02552   LINC02553   LINC02700   LINC02713   LINC02719   LINC02737   LINC02746   LINC02748   LINC02756   MAML2   MED17   MIR1260B   MIR1304   MIR3920   MIR4693   MIR548L   MMP1   MMP10   MMP12   MMP13   MMP20   MMP27   MMP3   MMP7   MMP8   MRE11   MSANTD4   MTMR2   MTNR1B   NPAT   PANX1   PDGFD   PGR   PGR-AS1   PIWIL4   POGLUT3   RAB39A   SCARNA9   SESN3   SLC35F2   SLC36A4   SLN   SMCO4   SNORA1   SNORA18   SNORA25   SNORA32   SNORA40   SNORA8   SNORD13I   SNORD5   SNORD6   SRSF8   TAF1D   TMEM123   TRPC6   VSTM5   YAP1  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000011.10:g.(?_91086659)_(109595582_?)del
NC_000011.9:g.(?_90819827)_(109466308_?)del
NC_000011.8:g.(?_90459475)_(108971518_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381191,086,659 - 109,595,582CLINVAR
GRCh371190,819,827 - 109,466,308CLINVAR
Build 361190,459,475 - 108,971,518CLINVAR
Cytogenetic Map1111q14.3-22.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9485587
Created: 2014-09-09
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.