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Variant : CV157130 (GRCh38/hg38 11q22.1-22.3(chr11:98357901-106059146)x1) Homo sapiens

Symbol: CV157130
Name: GRCh38/hg38 11q22.1-22.3(chr11:98357901-106059146)x1
Condition: See cases [RCV000136574]
Clinical Significance: pathogenic
Last Evaluated: 12/22/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ANGPTL5   ARHGAP42   BIRC2   BIRC3   CARD16   CARD17   CARD18   CASP1   CASP12   CASP4   CASP5   CEP126   CFAP300   CNTN5   DCUN1D5   DDI1   DYNC2H1   GRIA4   KBTBD3   LINC02552   MIR3920   MIR4693   MMP1   MMP10   MMP12   MMP13   MMP20   MMP27   MMP3   MMP7   MMP8   MSANTD4   PDGFD   PGR   PGR-AS1   SNORD13I   TMEM123   TRPC6   YAP1  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000011.10:g.(?_98357901)_(106059146_?)del
NC_000011.9:g.(?_98228629)_(105929873_?)del
NC_000011.8:g.(?_97733839)_(105435083_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381198,357,901 - 106,059,146CLINVAR
GRCh371198,228,629 - 105,929,873CLINVAR
Build 361197,733,839 - 105,435,083CLINVAR
Cytogenetic Map1111q22.1-22.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9484135
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.