Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV72007 (GRCh38/hg38 15q11.2-13.3(chr15:23319714-32607357)x3) Homo sapiens

Symbol: CV72007
Name: GRCh38/hg38 15q11.2-13.3(chr15:23319714-32607357)x3
Condition: See cases [RCV000051112]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AC012236.1   AC022613.1   AC091304.1   AC138749.1   APBA2   ARHGAP11B   ATP10A   CHRFAM7A   CHRNA7   FAM189A1   FAN1   GABRA5   GABRB3   GABRG3   GABRG3-AS1   GOLGA6L2   GOLGA6L7   GOLGA8F   GOLGA8G   GOLGA8H   GOLGA8J   GOLGA8K   GOLGA8M   GOLGA8N   GOLGA8O   GOLGA8Q   GOLGA8R   GOLGA8S   GOLGA8T   HERC2   IPW   KLF13   LINC00929   LINC02249   LINC02250   LINC02256   LINC02346   LINC02352   MAGEL2   MIR211   MIR4508   MIR4509-2   MIR4509-3   MIR4715   MKRN3   MTMR10   NDN   NPAP1   NSMCE3   OCA2   OTUD7A   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   TJP1   TRE-TTC2-2   TRPM1   UBE3A  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000015.10:g.(?_23319714)_(32607357_?)dup
Human AssemblyChrPosition (strand)Source
GRCh381523,319,714 - 32,607,357CLINVAR
GRCh371522,698,522 - 32,899,558CLINVAR
Build 361520,249,886 - 30,686,850CLINVAR
Cytogenetic Map1515q11.2-13.3CLINVAR

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 8618154
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-07-28
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.