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Variant : CV159281 (GRCh38/hg38 15q11.2-14(chr15:23319714-38545325)x3) Homo sapiens

Symbol: CV159281
Name: GRCh38/hg38 15q11.2-14(chr15:23319714-38545325)x3
Condition: See cases [RCV000138530]
Clinical Significance: pathogenic
Last Evaluated: 08/13/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ACTC1   APBA2   AQR   ARHGAP11A   ARHGAP11B   ATP10A   AVEN   CDIN1   CHRFAM7A   CHRM5   CHRNA7   DPH6   DPH6-DT   EMC4   EMC7   FAM189A1   FAM98B   FAN1   FMN1   GABRA5   GABRB3   GABRG3   GABRG3-AS1   GJD2   GOLGA6L2   GOLGA6L7   GOLGA8A   GOLGA8B   GOLGA8F   GOLGA8G   GOLGA8H   GOLGA8J   GOLGA8K   GOLGA8M   GOLGA8N   GOLGA8O   GOLGA8Q   GOLGA8R   GOLGA8S   GOLGA8T   GREM1   HERC2   IPW   KATNBL1   KLF13   LINC00929   LINC01852   LINC02249   LINC02250   LINC02252   LINC02256   LINC02345   LINC02346   LINC02352   LINC02853   LPCAT4   MAGEL2   MEIS2   MIR1233-1   MIR1233-2   MIR211   MIR3942   MIR4508   MIR4509-2   MIR4509-3   MIR4510   MIR4715   MIR8063   MKRN3   MTMR10   NANOGP8   NDN   NOP10   NPAP1   NSMCE3   NUTM1   OCA2   OTUD7A   PGBD4   PWAR1   PWAR4   PWAR5   PWAR6   PWARSN   PWRN1   PWRN2   PWRN3   PWRN4   RASGRP1   RYR3   SCG5   SCG5-AS1   SLC12A6   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   SPRED1   TJP1   TMCO5A   TRE-TTC2-2   TRPM1   UBE3A   ZNF770  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000015.10:g.(?_23319714)_(38545325_?)dup
NC_000015.9:g.(?_22765628)_(38837526_?)dup
NC_000015.8:g.(?_20316992)_(36624818_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381523,319,714 - 38,545,325CLINVAR
GRCh371522,765,628 - 38,837,526CLINVAR
Build 361520,316,992 - 36,624,818CLINVAR
Cytogenetic Map1515q11.2-14CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9486070
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-05-19
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.