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Variant : CV514186 (GRCh37/hg19 1q32.1-32.3(chr1:204682513-212815646)) Homo sapiens

Symbol: CV514186
Name: GRCh37/hg19 1q32.1-32.3(chr1:204682513-212815646)
Condition: Global developmental delay [RCV000626524]|Intellectual disability [RCV000626524]
Clinical Significance: pathogenic
Last Evaluated: 01/01/2017
Review Status: criteria provided, single submitter
Related Genes: ATF3   AVPR1B   C1orf116   C1orf147   C1orf74   C4BPA   C4BPB   CAMK1G   CD34   CD46   CD55   CDK18   CNTN2   CR1   CR1L   CR2   CTSE   DSTYK   DTL   DYRK3   EIF2D   ELK4   FAM71A   FAM72A   FCAMR   FCMR   G0S2   HHAT   HSD11B1   IKBKE   IL10   IL19   IL20   IL24   INTS7   IRF6   KCNH1   KLHDC8A   LAMB3   LEMD1   LPGAT1   MAPKAPK2   MFSD4A   MIR205   MIR205HG   MIR29B2CHG   MIR29C   NEK2   NENF   NFASC   NUAK2   NUCKS1   PACC1   PFKFB2   PIGR   PLXNA2   PM20D1   PPP2R5A   RAB29   RASSF5   RBBP5   RCOR3   RD3   RHEX   SERTAD4   SLC26A9   SLC30A1   SLC41A1   SLC45A3   SRGAP2   SYT14   TMCC2   TMEM81   TRAF3IP3   TRAF5   UTP25   YOD1  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh371204,682,513 - 212,815,646CLINVAR
Cytogenetic Map11q32.1-32.3CLINVAR
Trait Synonyms: Cognitive delay; Decreased muscle tone; Delayed cognitive development; Delayed development; Delayed developmental milestones; Delayed intellectual development; Delayed milestones; Delayed psychomotor development; Developmental delay in early childhood; Developmental retardation; Dull intelligence; Generalized hypotonia; Generalized muscular hypotonia; Hypotonia; Intellectual disability; Lack of psychomotor development; Low intelligence; Low muscle tone; Mental and motor retardation; Mental deficiency; Mental retardation, nonspecific; Mental-retardation; Motor and developmental delay; Nonprogressive intellectual disability; Nonprogressive mental retardation; Poor school performance; Psychomotor delay; Psychomotor development deficiency; Psychomotor development failure; Psychomotor developmental delay; Psychomotor retardation; Retarded development; Retarded mental development; Retarded psychomotor development

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 13613560
Created: 2018-06-12
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.