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Variant : CV71790 (GRCh38/hg38 15q26.2-26.3(chr15:94033008-101843270)x3) Homo sapiens

Symbol: CV71790
Name: GRCh38/hg38 15q26.2-26.3(chr15:94033008-101843270)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050851]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050851]|See cases [RCV000050851]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ADAMTS17   ALDH1A3   ARRDC4   ASB7   CERS3   CERS3-AS1   CHSY1   FAM169B   IGF1R   IRAIN   LINC00923   LINC00924   LINC01197   LINC01581   LINC01582   LINC02244   LINC02251   LINC02254   LINC02348   LINC02351   LINS1   LRRC28   LRRK1   LUNAR1   LYSMD4   MCTP2   MEF2A   MIR1469   MIR4714   NR2F2   NR2F2-AS1   OR4F15   OR4F6   PCSK6   PCSK6-AS1   PGPEP1L   SELENOS   SNRPA1   SPATA41   SPATA8   SPATA8-AS1   SYNM   TARSL2   TM2D3   TTC23  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000015.10:g.(?_94033008)_(101843270_?)dup
NC_000015.9:g.(?_94576237)_(102383473_?)dup
NC_000015.8:g.(?_92377241)_(100200996_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381594,033,008 - 101,843,270CLINVAR
GRCh371594,576,237 - 102,383,473CLINVAR
Build 361592,377,241 - 100,200,996CLINVAR
Cytogenetic Map1515q26.2-26.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8617919
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-08-06
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.