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Variant : CV157439 (GRCh38/hg38 11q22.1-22.3(chr11:101452984-104044105)x3) Homo sapiens

Symbol: CV157439
Name: GRCh38/hg38 11q22.1-22.3(chr11:101452984-104044105)x3
Condition: See cases [RCV000136846]
Clinical Significance: pathogenic
Last Evaluated: 10/14/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ANGPTL5   BIRC2   BIRC3   CEP126   CFAP300   DCUN1D5   DDI1   DYNC2H1   MIR3920   MIR4693   MMP1   MMP10   MMP12   MMP13   MMP20   MMP27   MMP3   MMP7   MMP8   PDGFD   TMEM123   TRPC6   YAP1  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000011.10:g.(?_101452984)_(104044105_?)dup
NC_000011.9:g.(?_101323715)_(103914833_?)dup
NC_000011.8:g.(?_100828925)_(103420043_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh3811101,452,984 - 104,044,105CLINVAR
GRCh3711101,323,715 - 103,914,833CLINVAR
Build 3611100,828,925 - 103,420,043CLINVAR
Cytogenetic Map1111q22.1-22.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9484407
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.