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Variant : CV72665 (GRCh38/hg38 15q11.2-13.1(chr15:23319714-28681287)x3) Homo sapiens

Symbol: CV72665
Name: GRCh38/hg38 15q11.2-13.1(chr15:23319714-28681287)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051813]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051813]|See cases [RCV000051813]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ATP10A   GABRA5   GABRB3   GABRG3   GABRG3-AS1   GOLGA6L2   GOLGA8F   GOLGA8G   GOLGA8S   HERC2   IPW   LINC00929   LINC02250   LINC02346   MAGEL2   MIR4508   MIR4509-2   MIR4509-3   MIR4715   MKRN3   NDN   NPAP1   OCA2   PWAR1   PWAR4   PWAR5   PWAR6   PWARSN   PWRN1   PWRN2   PWRN3   PWRN4   SNHG14   SNORD107   SNORD108   SNORD109A   SNORD109B   SNORD115-1   SNORD115-10   SNORD115-11   SNORD115-12   SNORD115-13   SNORD115-14   SNORD115-15   SNORD115-16   SNORD115-17   SNORD115-18   SNORD115-19   SNORD115-2   SNORD115-20   SNORD115-21   SNORD115-22   SNORD115-23   SNORD115-24   SNORD115-25   SNORD115-26   SNORD115-27   SNORD115-28   SNORD115-29   SNORD115-3   SNORD115-30   SNORD115-31   SNORD115-32   SNORD115-33   SNORD115-34   SNORD115-35   SNORD115-36   SNORD115-37   SNORD115-38   SNORD115-39   SNORD115-4   SNORD115-40   SNORD115-41   SNORD115-42   SNORD115-43   SNORD115-44   SNORD115-45   SNORD115-46   SNORD115-47   SNORD115-48   SNORD115-5   SNORD115-6   SNORD115-7   SNORD115-8   SNORD115-9   SNORD116-1   SNORD116-10   SNORD116-11   SNORD116-12   SNORD116-13   SNORD116-14   SNORD116-15   SNORD116-16   SNORD116-17   SNORD116-18   SNORD116-19   SNORD116-2   SNORD116-20   SNORD116-21   SNORD116-22   SNORD116-23   SNORD116-24   SNORD116-25   SNORD116-26   SNORD116-27   SNORD116-28   SNORD116-29   SNORD116-3   SNORD116-30   SNORD116-4   SNORD116-5   SNORD116-6   SNORD116-7   SNORD116-8   SNORD116-9   SNORD116@   SNORD64   SNRPN   SNURF   TRE-TTC2-2   UBE3A  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000015.10:g.(?_23319714)_(28681287_?)dup
NC_000015.9:g.(?_23510051)_(28926433_?)dup
NC_000015.8:g.(?_21061492)_(26725474_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381523,319,714 - 28,681,287CLINVAR
GRCh371523,510,051 - 28,926,433CLINVAR
Build 361521,061,492 - 26,725,474CLINVAR
Cytogenetic Map1515q11.2-13.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8618825
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-12-03
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.