Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV154107 (GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1) Homo sapiens

Symbol: CV154107
Name: GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1
Condition: See cases [RCV000133838]
Clinical Significance: pathogenic
Last Evaluated: 12/30/2009
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AAMDC   ACER3   ALG8   AMOTL1   ANKRD42   ANKRD49   AQP11   B3GNT6   C11orf54   C11orf97   CAPN5   CCDC81   CCDC82   CCDC83   CCDC89   CCDC90B   CEP295   CEP57   CHORDC1   CLNS1A   CREBZF   CTSC   CWC15   DDIAS   DEUP1   DISC1FP1   DLG2   DLG2-AS2   EED   EMSY   ENDOD1   FAM181B   FAM76B   FAT3   FOLH1B   FUT4   FZD4   FZD4-DT   GAB2   GDPD4   GPR83   GRM5   GRM5-AS1   GVQW3   HEPHL1   HIKESHI   INTS4   IZUMO1R   JRKL   JRKL-AS1   KCTD14   KCTD21   KCTD21-AS1   KDM4D   KDM4E   LINC02553   LINC02700   LINC02711   LINC02713   LINC02720   LINC02728   LINC02734   LINC02737   LINC02746   LINC02748   LINC02756   LINC02757   LRRC32   MAML2   ME3   ME3-DT   MED17   MIR1260B   MIR1261   MIR1304   MIR3166   MIR4300   MIR4300HG   MIR4490   MIR548L   MIR5579   MIR6755   MIR708   MRE11   MTMR2   MTNR1B   MYO7A   NAALAD2   NARS2   NDUFC2   NDUFC2-KCTD14   NOX4   OMP   PAK1   PANX1   PCF11   PCF11-AS1   PICALM   PIWIL4   PRCP   PRSS23   RAB30   RAB30-DT   RAB38   RSF1   SCARNA9   SESN3   SLC36A4   SMCO4   SNORA1   SNORA18   SNORA25   SNORA32   SNORA40   SNORA70E   SNORA8   SNORD5   SNORD6   SRSF8   SYTL2   TAF1D   TENM4   THAP12   THRSP   TMEM126A   TMEM126B   TMEM135   TRIM49   TRIM49C   TRIM49D1   TRIM49D2   TRIM64   TRIM64B   TRIM77   TRP-AGG2-4   TRP-TGG2-1   TSKU   TYR   UBTFL1   USP35   UVRAG   VSTM5   WNT11  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000011.10:g.(?_75941754)_(98357960_?)del
NC_000011.9:g.(?_75652798)_(98228688_?)del
NC_000011.8:g.(?_75330446)_(97733898_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381175,941,754 - 98,357,960CLINVAR
GRCh371175,652,798 - 98,228,688CLINVAR
Build 361175,330,446 - 97,733,898CLINVAR
Cytogenetic Map1111q13.5-22.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9481423
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-07
Status: ACTIVE



NHLBI Logo

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