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Variant : CV73514 (GRCh38/hg38 11q14.1-22.2(chr11:85242847-102920097)x1) Homo sapiens

Symbol: CV73514
Name: GRCh38/hg38 11q14.1-22.2(chr11:85242847-102920097)x1
Condition: Muscular hypotonia [RCV000052711]|See cases [RCV000052711]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AMOTL1   ANGPTL5   ANKRD49   ARHGAP42   BIRC2   BIRC3   C11orf54   C11orf97   CCDC81   CCDC82   CCDC83   CCDC89   CEP126   CEP295   CEP57   CFAP300   CHORDC1   CNTN5   CREBZF   CTSC   CWC15   DEUP1   DISC1FP1   DLG2   EED   ENDOD1   FAM76B   FAT3   FOLH1B   FUT4   FZD4   FZD4-DT   GPR83   GRM5   GRM5-AS1   HEPHL1   HIKESHI   IZUMO1R   JRKL   JRKL-AS1   KDM4D   KDM4E   LINC02553   LINC02700   LINC02711   LINC02713   LINC02737   LINC02746   LINC02748   LINC02756   MAML2   ME3   ME3-DT   MED17   MIR1260B   MIR1261   MIR1304   MIR3166   MIR3920   MIR4490   MIR548L   MIR6755   MMP1   MMP10   MMP12   MMP20   MMP27   MMP3   MMP7   MMP8   MRE11   MTMR2   MTNR1B   NAALAD2   NOX4   PANX1   PGR   PGR-AS1   PICALM   PIWIL4   PRSS23   RAB38   SCARNA9   SESN3   SLC36A4   SMCO4   SNORA1   SNORA18   SNORA25   SNORA32   SNORA40   SNORA8   SNORD13I   SNORD5   SNORD6   SRSF8   SYTL2   TAF1D   TMEM123   TMEM126A   TMEM126B   TMEM135   TRIM49   TRIM49C   TRIM49D1   TRIM49D2   TRIM64   TRIM64B   TRIM77   TRPC6   TYR   UBTFL1   VSTM5   YAP1  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000011.10:g.(?_85242847)_(102920097_?)del
Human AssemblyChrPosition (strand)Source
GRCh381185,242,847 - 102,920,097CLINVAR
GRCh371184,953,891 - 102,738,968CLINVAR
Build 361184,631,539 - 102,296,037CLINVAR
Cytogenetic Map1111q14.1-22.2CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 8619686
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-10-08
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.