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Variant : CV581732 (GRCh37/hg19 11q14.1-14.3(chr11:81771852-90851187)) Homo sapiens

Symbol: CV581732
Name: GRCh37/hg19 11q14.1-14.3(chr11:81771852-90851187)
Condition: Intellectual disability [RCV000721939]
Clinical Significance: pathogenic
Last Evaluated: 11/06/2018
Review Status: criteria provided, single submitter
Related Genes: ANKRD42   CCDC81   CCDC83   CCDC89   CCDC90B   CHORDC1   CREBZF   CTSC   DDIAS   DLG2   EED   FAM181B   FOLH1B   FZD4   GRM5   HIKESHI   ME3   NAALAD2   NOX4   PCF11   PICALM   PRCP   PRSS23   RAB30   RAB38   SYTL2   TMEM126A   TMEM126B   TMEM135   TRIM49   TRIM49C   TRIM49D1   TRIM49D2   TRIM64   TRIM64B   TRIM77   TYR   UBTFL1  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh371181,771,852 - 90,851,187CLINVAR
Cytogenetic Map1111q14.1-14.3CLINVAR
Trait Synonyms: Dull intelligence; Low intelligence; Mental deficiency; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation; Poor school performance

Additional Information

External Database Links
RGD Object Information
RGD ID: 13828714
Created: 2018-12-06
Species: Homo sapiens
Last Modified: 2020-03-24
Status: ACTIVE


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